This document discusses congenital craniofacial malformations. It describes the embryological development of the face, which involves contributions from the ectoderm, neural crest, and paraxial mesoderm. Precise signaling between these tissues is required for normal patterning and growth. Malformations can result from disruptions to molecular signals like hedgehogs, fibroblast growth factors, and retinoic acid during crucial developmental windows. The palate, nasal cavities, and facial skeleton all develop through complex interactions between mesodermal and ectodermal tissues guided by these molecular signals.
Prenatal growth /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
Growth Development Of Face And Oral Cavityshabeel pn
The document summarizes concepts related to human growth and development from conception through early embryogenesis. It discusses how the embryo forms from the fertilized egg and progresses through stages such as the morula, blastocyst, and implantation. It describes the formation and differentiation of the three germ layers - ectoderm, endoderm, and mesoderm. It also summarizes the development of key structures like the nervous system, branchial arches, and blood supply to the face.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
Growth & development of face/certified fixed orthodontic courses by India...Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
The document summarizes prenatal and postnatal growth and development of the face. It describes how the face increases in size much more during the prenatal period compared to postnatal growth. It outlines the development of the face from the gestational periods and formation of the primordia. It discusses common anomalies during development and functional therapies. The craniofacial bones undergo remodeling and fusion during childhood with the skull assuming the adult shape by adolescence.
prenatal growth and development of face
GROWTH
Growth may be defined as the normal changes in the amount of a living substance – MOYER
Growth refers to an increase in size or number – PROFFIT
Growth may be defined as a developmental increase in mass i.e, it is a process that leads to an increase in the physical size of cells, tissues, organs or organisms as a whole – STEWART 1982
“Growth signifies an increase, expansion or extension of any given tissue.” - Pinkham.(1994)
Development refers to all the naturally occurring progressive, unidirectional changes in the life of an individual from its existence as a single cell to its elaboration as a multifunctional unit terminating in death. – MOYERS 1988
Development addresses the progressive evolution of a tissue PINKHAM 1994
“Development is a progress towards maturity” – Todd(1931)
The face develops from the third to eighth week of gestation as the pharyngeal arches, pouches and clefts form. The pharyngeal arches contribute mesenchymal tissue that gives rise to structures of the head and neck. Neural crest cells migrate into the arches and determine the skeletal structures that develop. Each arch is associated with a cranial nerve and blood vessel. Structures of the face, ears, tongue, larynx and thyroid develop from the differentiation and fusion of the pharyngeal arches and clefts.
Prenatal growth and development in orthodontics /certified fixed orthodontic ...Indian dental academy
Welcome to Indian Dental Academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy has a unique training program & curriculum that provides students with exceptional clinical skills and enabling them to return to their office with high level confidence and start treating patients
Prenatal growth /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
Growth Development Of Face And Oral Cavityshabeel pn
The document summarizes concepts related to human growth and development from conception through early embryogenesis. It discusses how the embryo forms from the fertilized egg and progresses through stages such as the morula, blastocyst, and implantation. It describes the formation and differentiation of the three germ layers - ectoderm, endoderm, and mesoderm. It also summarizes the development of key structures like the nervous system, branchial arches, and blood supply to the face.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
Growth & development of face/certified fixed orthodontic courses by India...Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
The document summarizes prenatal and postnatal growth and development of the face. It describes how the face increases in size much more during the prenatal period compared to postnatal growth. It outlines the development of the face from the gestational periods and formation of the primordia. It discusses common anomalies during development and functional therapies. The craniofacial bones undergo remodeling and fusion during childhood with the skull assuming the adult shape by adolescence.
prenatal growth and development of face
GROWTH
Growth may be defined as the normal changes in the amount of a living substance – MOYER
Growth refers to an increase in size or number – PROFFIT
Growth may be defined as a developmental increase in mass i.e, it is a process that leads to an increase in the physical size of cells, tissues, organs or organisms as a whole – STEWART 1982
“Growth signifies an increase, expansion or extension of any given tissue.” - Pinkham.(1994)
Development refers to all the naturally occurring progressive, unidirectional changes in the life of an individual from its existence as a single cell to its elaboration as a multifunctional unit terminating in death. – MOYERS 1988
Development addresses the progressive evolution of a tissue PINKHAM 1994
“Development is a progress towards maturity” – Todd(1931)
The face develops from the third to eighth week of gestation as the pharyngeal arches, pouches and clefts form. The pharyngeal arches contribute mesenchymal tissue that gives rise to structures of the head and neck. Neural crest cells migrate into the arches and determine the skeletal structures that develop. Each arch is associated with a cranial nerve and blood vessel. Structures of the face, ears, tongue, larynx and thyroid develop from the differentiation and fusion of the pharyngeal arches and clefts.
Prenatal growth and development in orthodontics /certified fixed orthodontic ...Indian dental academy
Welcome to Indian Dental Academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy has a unique training program & curriculum that provides students with exceptional clinical skills and enabling them to return to their office with high level confidence and start treating patients
Prenatal growth & development /diploma orthodontic course by indian dental ac...Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
Prenatal growth /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
1. The document discusses prenatal facial growth, which can be divided into three periods: the period of the ovum, embryo, and fetus.
2. During the period of the embryo (1-7 weeks), the major development of the facial and cranial regions occurs, including the formation of the branchial arches which give rise to structures of the face, neck, and throat.
3. In the period of the fetus, accelerated growth of craniofacial structures occurs resulting in increased size and changes in proportions, and the prenatal growth of structures such as the cranial base, maxilla, mandible, palate, and mandible are described.
This presentation is an overview of the first 12 weeks of embryological development, especially related to oral and facial development. The information comes from "Illustrated Dental Embryology, Histology, and Anatomy" by Mary Bath-Balogh and Margaret Fehrenbach, 3rd edition.
1. The document discusses the development of the face and oral cavity from early prenatal growth through maturation. It describes how the five facial prominences, including the frontonasal, maxillary, and mandibular processes, develop and give rise to different structures.
2. Key stages of development discussed include formation of the oral cavity from the stomodeum, separation of the nasal cavity by fusion of the medial nasal processes, and separation of the oral and nasal cavities by formation and fusion of the secondary palate from palatine shelves.
3. Glands such as the parotid, submandibular, and sublingual glands develop from epithelial buds in the oral cavity and surrounding
The notochord serves as the basis for the axial skeleton. The formation of the notochord starts with the appearance of the prechordal plate between the tip of the notochord and the oropharyngeal membrane. Prenotochordal cells then form the notochordal process which extends between the prechordal plate and primitive pit. The amnion then invaginates through the primitive pit to form the notochordal canal. The floor of this canal then degenerates to form the neurenteric canal, temporarily connecting the amniotic and yolk sac cavities. The remaining roof forms the notochordal plate which detaches from the endoderm to form the definitive not
The document discusses the development of the face and palate from embryology. It begins with an introduction to embryology and the formation of germ layers. It then covers the development of the five facial primordia around the stomodeum in the fourth week. This includes the frontonasal prominence and paired maxillary and mandibular prominences. It also discusses the formation of the nasal placodes, lips, eyes, and ears from the facial prominences. The document next explains palatogenesis, including the development of the primary and secondary palate from the sixth to twelfth weeks. It concludes with anomalies that can occur during craniofacial development.
Face develops in humans between 4th – 10th week of intrauterine life.
prenatal growth of the maxilla
DEVELOPMENT OF UPPER LIP
Development of lower lip
Development of nose
hare lip
OBLIQUE FACIAL CLEFT
macrostomia
lateral facial cleft
microstomia
Germ cells are produced through meiosis which halves the number of chromosomes from 46 to 23. Fertilization restores the diploid number when a sperm and egg fuse. Mitosis duplicates DNA before cell division so each new cell has the full chromosome number. Meiosis involves two cell divisions without DNA replication between, resulting in four haploid gametes each with 23 chromosomes. Chromosomal abnormalities can arise from errors in meiosis or mitosis, causing conditions like Down syndrome, Turner syndrome, and others with characteristic physical and dental features.
This document discusses facial growth and development from prenatal through postnatal stages. It begins with terminology for growth and development, then describes how the face develops from tissues originating in the neural crest, somites, and pharyngeal arches during prenatal development. Midface development, palate development, and common birth defects are reviewed. Postnatal growth theories including genetic, sutural, cartilaginous, functional matrix, and servosystem models are introduced. Common craniofacial anomalies associated with chromosome abnormalities or neural crest cell defects are also summarized.
Growth and development involves complex interactions between tissues originating from the three germ layers - ectoderm, endoderm, and mesoderm. Specific structures in the craniofacial complex are derived from unique combinations of these tissues. Growth patterns in the fetus and after birth follow cephalocaudal and proportional gradients. Tissue systems grow at different rates over the lifespan from early fetal development through maturity.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
The developmental anatomy of reproductive systemSahar Hafeez
This lecture encompasses the pertinent structural details of the sequence of embryological development of the male and female reproductive tracts. Focusing over the detail of differentiation of gonadal ridges into male & female gonads and development of the duct systems in both sexes during the first few weeks intrauterine life.
Development of oral cavity and face .ppt by dr. samidha aroraSamidha Arora
The document summarizes the development of the oral cavity and face from the 4th week of embryonic development. It discusses how the frontonasal process, nasal placodes, maxillary processes, and mandibular processes give rise to different structures of the face. It also describes the development of the palate from palatal shelves growing from the maxillary processes that later fuse together.
1. The document provides a general overview of human embryological processes including germ cell formation and fertilization, prenatal development through the formation of three layers, induction and differentiation, formation of the neural crest, and folding of the embryo.
2. Key stages discussed include gametogenesis, fertilization of the ovum by sperm to form a zygote, formation of the morula and blastocyst, implantation in the uterus, formation of the bilaminar and trilaminar germ discs, and development of the three germ layers and tissues from each layer.
3. Neural crest formation involves the development of the neural plate and tube from ectoderm and the migration of neural crest cells to
Course in facial development for European Course in Neuroradiology in Tarragona, Spain, on 12 octobre 2008. For questions, e-mail to etchevers at free dot fr. Download to play the animations (especially as some pictures are covered by others)
This document discusses the development of the face and oral cavity from early embryonic stages through postnatal growth. It covers topics like germ cell formation and fertilization, the formation of the three germ layers and neural tube, development of the branchial arches and pharyngeal pouches, shifts in blood supply to the face, development of muscles and cartilage, and prenatal and postnatal growth patterns. The development of the face and oral cavity involves complex interactions between ectoderm, mesoderm, endoderm, and neural crest cells during embryonic and fetal development.
Growth & development of face/certified fixed orthodontic courses by India...Indian dental academy
The document discusses the development and growth of the face from early embryogenesis through adulthood. It describes how the face develops from five prominences surrounding the mouth, including the frontonasal, paired maxillary, and paired mandibular processes. It also discusses the development of structures like the nose, eyes, ears, palate and branchial arches and how anomalies can occur. The growth and anatomy of the face is then covered, addressing topics like muscles, nerves, arteries, growth patterns and theories.
The document discusses the development of the face and palate in humans. It describes how the face develops from structures around the stomatodeum, including the frontonasal process and first pharyngeal arch. The lips, nose, cheeks, eyes, and ears develop through the growth and fusion of these structures between 4-8 weeks. The palate develops from the primary and secondary palate, which grow towards each other and fuse between 6-12 weeks. Possible developmental anomalies that can occur if this process is disrupted include cleft lip, cleft palate, and abnormalities in the size and position of facial features.
The document discusses prenatal growth of the maxilla and mandible. It begins by providing definitions of growth, development, and the correlation between the two. It then describes the prenatal embryology and ossification of the maxilla, including the development of the palate and maxillary sinus. For the mandible, it discusses the pharyngeal arches, Meckel's cartilage, ossification centers, and endochondral bone formation including the condylar and coronoid processes.
The face develops between the 4th and 6th week of embryonic development from structures including the frontonasal process, mandibular arches, and maxillary processes. Between the 6th and 12th week, the palate begins to form through the fusion of the palatal shelves, separating the nasal and oral cavities. Abnormalities can occur if the fusion of structures like the medial nasal processes, mandibular arches, or palatal shelves is incomplete, leading to cleft lip, cleft palate, or other anomalies. A thorough understanding of normal facial development aids in diagnosing and treating congenital defects.
Prenatal growth & development /diploma orthodontic course by indian dental ac...Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
Prenatal growth /certified fixed orthodontic courses by Indian dental academy Indian dental academy
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and offering a wide range of dental certified courses in different formats.
Indian dental academy provides dental crown & Bridge,rotary endodontics,fixed orthodontics,
Dental implants courses.for details pls visit www.indiandentalacademy.com ,or call
0091-9248678078
1. The document discusses prenatal facial growth, which can be divided into three periods: the period of the ovum, embryo, and fetus.
2. During the period of the embryo (1-7 weeks), the major development of the facial and cranial regions occurs, including the formation of the branchial arches which give rise to structures of the face, neck, and throat.
3. In the period of the fetus, accelerated growth of craniofacial structures occurs resulting in increased size and changes in proportions, and the prenatal growth of structures such as the cranial base, maxilla, mandible, palate, and mandible are described.
This presentation is an overview of the first 12 weeks of embryological development, especially related to oral and facial development. The information comes from "Illustrated Dental Embryology, Histology, and Anatomy" by Mary Bath-Balogh and Margaret Fehrenbach, 3rd edition.
1. The document discusses the development of the face and oral cavity from early prenatal growth through maturation. It describes how the five facial prominences, including the frontonasal, maxillary, and mandibular processes, develop and give rise to different structures.
2. Key stages of development discussed include formation of the oral cavity from the stomodeum, separation of the nasal cavity by fusion of the medial nasal processes, and separation of the oral and nasal cavities by formation and fusion of the secondary palate from palatine shelves.
3. Glands such as the parotid, submandibular, and sublingual glands develop from epithelial buds in the oral cavity and surrounding
The notochord serves as the basis for the axial skeleton. The formation of the notochord starts with the appearance of the prechordal plate between the tip of the notochord and the oropharyngeal membrane. Prenotochordal cells then form the notochordal process which extends between the prechordal plate and primitive pit. The amnion then invaginates through the primitive pit to form the notochordal canal. The floor of this canal then degenerates to form the neurenteric canal, temporarily connecting the amniotic and yolk sac cavities. The remaining roof forms the notochordal plate which detaches from the endoderm to form the definitive not
The document discusses the development of the face and palate from embryology. It begins with an introduction to embryology and the formation of germ layers. It then covers the development of the five facial primordia around the stomodeum in the fourth week. This includes the frontonasal prominence and paired maxillary and mandibular prominences. It also discusses the formation of the nasal placodes, lips, eyes, and ears from the facial prominences. The document next explains palatogenesis, including the development of the primary and secondary palate from the sixth to twelfth weeks. It concludes with anomalies that can occur during craniofacial development.
Face develops in humans between 4th – 10th week of intrauterine life.
prenatal growth of the maxilla
DEVELOPMENT OF UPPER LIP
Development of lower lip
Development of nose
hare lip
OBLIQUE FACIAL CLEFT
macrostomia
lateral facial cleft
microstomia
Germ cells are produced through meiosis which halves the number of chromosomes from 46 to 23. Fertilization restores the diploid number when a sperm and egg fuse. Mitosis duplicates DNA before cell division so each new cell has the full chromosome number. Meiosis involves two cell divisions without DNA replication between, resulting in four haploid gametes each with 23 chromosomes. Chromosomal abnormalities can arise from errors in meiosis or mitosis, causing conditions like Down syndrome, Turner syndrome, and others with characteristic physical and dental features.
This document discusses facial growth and development from prenatal through postnatal stages. It begins with terminology for growth and development, then describes how the face develops from tissues originating in the neural crest, somites, and pharyngeal arches during prenatal development. Midface development, palate development, and common birth defects are reviewed. Postnatal growth theories including genetic, sutural, cartilaginous, functional matrix, and servosystem models are introduced. Common craniofacial anomalies associated with chromosome abnormalities or neural crest cell defects are also summarized.
Growth and development involves complex interactions between tissues originating from the three germ layers - ectoderm, endoderm, and mesoderm. Specific structures in the craniofacial complex are derived from unique combinations of these tissues. Growth patterns in the fetus and after birth follow cephalocaudal and proportional gradients. Tissue systems grow at different rates over the lifespan from early fetal development through maturity.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
The developmental anatomy of reproductive systemSahar Hafeez
This lecture encompasses the pertinent structural details of the sequence of embryological development of the male and female reproductive tracts. Focusing over the detail of differentiation of gonadal ridges into male & female gonads and development of the duct systems in both sexes during the first few weeks intrauterine life.
Development of oral cavity and face .ppt by dr. samidha aroraSamidha Arora
The document summarizes the development of the oral cavity and face from the 4th week of embryonic development. It discusses how the frontonasal process, nasal placodes, maxillary processes, and mandibular processes give rise to different structures of the face. It also describes the development of the palate from palatal shelves growing from the maxillary processes that later fuse together.
1. The document provides a general overview of human embryological processes including germ cell formation and fertilization, prenatal development through the formation of three layers, induction and differentiation, formation of the neural crest, and folding of the embryo.
2. Key stages discussed include gametogenesis, fertilization of the ovum by sperm to form a zygote, formation of the morula and blastocyst, implantation in the uterus, formation of the bilaminar and trilaminar germ discs, and development of the three germ layers and tissues from each layer.
3. Neural crest formation involves the development of the neural plate and tube from ectoderm and the migration of neural crest cells to
Course in facial development for European Course in Neuroradiology in Tarragona, Spain, on 12 octobre 2008. For questions, e-mail to etchevers at free dot fr. Download to play the animations (especially as some pictures are covered by others)
This document discusses the development of the face and oral cavity from early embryonic stages through postnatal growth. It covers topics like germ cell formation and fertilization, the formation of the three germ layers and neural tube, development of the branchial arches and pharyngeal pouches, shifts in blood supply to the face, development of muscles and cartilage, and prenatal and postnatal growth patterns. The development of the face and oral cavity involves complex interactions between ectoderm, mesoderm, endoderm, and neural crest cells during embryonic and fetal development.
Growth & development of face/certified fixed orthodontic courses by India...Indian dental academy
The document discusses the development and growth of the face from early embryogenesis through adulthood. It describes how the face develops from five prominences surrounding the mouth, including the frontonasal, paired maxillary, and paired mandibular processes. It also discusses the development of structures like the nose, eyes, ears, palate and branchial arches and how anomalies can occur. The growth and anatomy of the face is then covered, addressing topics like muscles, nerves, arteries, growth patterns and theories.
The document discusses the development of the face and palate in humans. It describes how the face develops from structures around the stomatodeum, including the frontonasal process and first pharyngeal arch. The lips, nose, cheeks, eyes, and ears develop through the growth and fusion of these structures between 4-8 weeks. The palate develops from the primary and secondary palate, which grow towards each other and fuse between 6-12 weeks. Possible developmental anomalies that can occur if this process is disrupted include cleft lip, cleft palate, and abnormalities in the size and position of facial features.
The document discusses prenatal growth of the maxilla and mandible. It begins by providing definitions of growth, development, and the correlation between the two. It then describes the prenatal embryology and ossification of the maxilla, including the development of the palate and maxillary sinus. For the mandible, it discusses the pharyngeal arches, Meckel's cartilage, ossification centers, and endochondral bone formation including the condylar and coronoid processes.
The face develops between the 4th and 6th week of embryonic development from structures including the frontonasal process, mandibular arches, and maxillary processes. Between the 6th and 12th week, the palate begins to form through the fusion of the palatal shelves, separating the nasal and oral cavities. Abnormalities can occur if the fusion of structures like the medial nasal processes, mandibular arches, or palatal shelves is incomplete, leading to cleft lip, cleft palate, or other anomalies. A thorough understanding of normal facial development aids in diagnosing and treating congenital defects.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
The document outlines craniofacial development from embryology through birth. It discusses how facial tissues originate from ectoderm and neural crest cells. It describes 5 stages of craniofacial development from germ layer formation to organ system formation. Common craniofacial disorders are explained such as fetal alcohol syndrome, cleft lip/palate, and craniosynostosis syndromes. Growth and development of specific structures like the nose, palate, and mandible are detailed. Growth mechanisms and sites are compared for cranial vault, cranial base, nasomaxillary complex, and mandible.
The document summarizes the development of teeth from early embryogenesis through the stages of tooth formation. It discusses the three germ layers that form during gastrulation and the formation of the neural tube. Tooth development begins with the formation of the dental lamina from oral epithelium. Tooth buds form from outgrowths of the dental lamina and develop through the bud, cap and bell stages. Key cellular and molecular components that regulate tooth morphogenesis are the enamel organ, dental papilla, transcription factors and growth factors.
Indian Dental Academy: will be one of the most relevant and exciting training center with best faculty and flexible training programs for dental professionals who wish to advance in their dental practice,Offers certified courses in Dental implants,Orthodontics,Endodontics,Cosmetic Dentistry, Prosthetic Dentistry, Periodontics and General Dentistry.
The document summarizes prenatal craniofacial growth and development from the period of the ovum to the period of the fetus. It discusses the formation and ossification of structures like the cranial base, maxilla, mandible and palate. Key points include:
- The cranial base develops from mesenchymal tissue and forms cartilage centers that fuse to form the occipital, temporal and sphenoid bones.
- The maxilla develops from the first brachial arch and maxillary processes. The palate forms from the palatal shelves and separates the nasal cavities.
- The mandible develops from the first brachial arch and forms from intramembranous
The document summarizes embryological development of the face and neck. It discusses the 4 main stages of development from germ layer formation to final tissue differentiation. Key events include neural tube formation, origin and migration of cell populations, formation of organ systems like the primary and secondary palate, and final tissue differentiation. Many facial abnormalities arise from problems with neural crest cell migration in the 3rd stage. Common conditions resulting from disrupted development include cleft lip/palate, hemifacial microsomia, and synostosis syndromes. Physiological functions of the oral cavity like respiration, swallowing, mastication and speech continue developing after birth through childhood.
Craniofacial growth is a complex and a beautiful phenomenon.
It all begins when a sperm cell fuses with an egg cell, a process called fertilization.
Human fertilization is the union of a human egg and sperm, usually occurring in the ampulla of the fallopian tube. The result of this union is the production of a ’Zygote’ cell, or fertilized egg, initiating prenatal development
Prenatal growth can be divided into 3 main stages:
Germinal stage: From ovulation to implantation(0-2 weeks).
Embryonic stage : 3rd week to 8th week.
Fetal stage: 9th week till birth.
Pre natal and post-natal development of maxilla part 2/certified fixed orthod...Indian dental academy
The document summarizes prenatal and postnatal development of the maxilla. It describes how the palate develops from the primary and secondary palatal shelves between weeks 5-10 of development. The palatal shelves initially grow vertically on either side of the tongue, then reorient horizontally above the tongue where they fuse in the midline. Ossification of the palate begins around week 8 from the maxillae and palatine bones. Postnatally, the maxilla continues growing through processes like sutural growth, surface remodeling, and pneumatization of the maxillary sinuses.
Features of Morphometric Characteristic of Craniofascial Area of Children wit...ijtsrd
The document discusses congenital cleft lip and palate (CCLP) which occurs due to impaired facial development in utero. CCLP can cause abnormalities in craniofacial growth and development including asymmetry of the nasal cartilage and maxillary sinuses, smaller nasopharynx size, and abnormalities of muscles that control the auditory tube. Effective treatment of CCLP requires periodic study of jaw growth dynamics. Surgery to repair clefts can also impact craniofacial growth through iatrogenic factors like scarring, and both internal defects and surgical factors may contribute to abnormal facial morphology. Assessing individual variability in treatment outcomes is important.
Craniofacial embryology Implications for craniofacial syndromes - July 2019.pdfnonaaryan3
This document discusses prenatal and postnatal craniofacial growth and implications for craniofacial syndromes. It covers the five principal stages of craniofacial development from germ layer formation through final tissue differentiation. Specific syndromes like fetal alcohol syndrome, Treacher Collins syndrome, and hemifacial microsomia are discussed in context of when disruptions occur during development. Cleft lip, cleft palate, and other clefting issues are examined including causes, types, prevalence, diagnosis, and multidisciplinary treatment approaches throughout development.
This document discusses the development of the face and oral cavity from early embryogenesis through formation of structures. It covers the formation of the three germ layers and how they give rise to different tissues. Pharyngeal arches form and contribute to structures including muscles and cartilages. The oral cavity develops from the stomatodeum and foregut. Facial prominences including the frontonasal, maxillary and mandibular processes form the lips, nose, and palate as they grow and fuse. Structures such as the eyes also develop during this period of facial development.
prenatal growth - Dr.Hiba Abdullah MurshidHibaAbdullah8
The document discusses prenatal growth and development from weeks 1 through 4. In week 1 and 2, the zygote undergoes cleavage and implants in the uterus as a blastocyst. In week 3, known as the trilaminar disk stage, gastrulation occurs as the primitive streak forms and the three germ layers - ectoderm, endoderm, and mesoderm - develop. In week 4, organ systems begin to form rapidly from the germ layers and the neural tube develops as neurulation occurs.
Indian Dental Academy: will be one of the most relevant and exciting training center with best faculty and flexible training programs for dental professionals who wish to advance in their dental practice,Offers certified courses in Dental implants,Orthodontics,Endodontics,Cosmetic Dentistry, Prosthetic Dentistry, Periodontics and General Dentistry.
The document discusses prenatal development of the face and palate from the 3rd to 12th week of gestation. It describes how the facial prominences merge to form structures like the nose, lips, and cheeks. It also explains palate formation, including the development of the primary and secondary palate, elevation of the palatal shelves, and their fusion to complete the separation of the oral and nasal cavities.
The Indian Dental Academy is the Leader in continuing dental education , training dentists in all aspects of dentistry and
offering a wide range of dental certified courses in different formats.for more details please visit
www.indiandentalacademy.com
This document provides an outline for a lecture on general embryology. It covers topics like erythropoiesis, gastrulation, formation of the three germ layers, neurulation, somite formation, and differentiation of the mesoderm and endoderm. During gastrulation, cells migrate through the primitive streak to form the ectoderm, mesoderm and endoderm layers. The notochord forms in the midline and guides development. Neurulation involves the formation of the neural plate and tube which will become the central nervous system. Somites form from the paraxial mesoderm and differentiate into sclerotome, myotome and dermatome. The intermediate and lateral plate mes
Similar to Congenital craniofacial malformations (20)
Mastoidectomy is a surgical procedure to access and treat infections or diseases of the mastoid air cells behind the ear. The summary describes:
1. The history of mastoidectomy dates back to ancient times, with modern improvements like the operating microscope in the 20th century.
2. There are different classifications of mastoidectomy based on the extent of air cell removal and whether the ear canal wall is intact or removed.
3. Indications for mastoidectomy include treatment of infections, drainage of abscesses, and approaches for other inner ear surgeries. Complications can include injuries to nearby structures like the dura, facial nerve or blood vessels.
Cholesteatoma is a cyst-like structure in the middle ear that grows due to the accumulation of skin cells. It can be congenital, arising from embryonic skin cell rests, or acquired through retraction pockets in the eardrum or entry of skin cells through an eardrum perforation. Acquired cholesteatomas are further classified as primary, arising in the attic region with no prior ear issues, or secondary, following ear infection. Cholesteatomas cause bone destruction through enzymes released by the surrounding granulation tissue and can lead to hearing loss, facial nerve problems, or intracranial complications if untreated. Treatment involves surgery to remove the cholesteatoma along with any infected
This document defines tympanoplasty and provides a history and overview of the procedure. It begins by defining tympanoplasty as a procedure to eradicate disease in the middle ear and reconstruct the hearing mechanism, with or without grafting of the tympanic membrane. It then discusses the history of developments in tympanoplasty techniques from the 1950s onward. The document outlines the aims, objectives, types based on various classification systems, indications, contraindications and steps of performing tympanoplasty.
This document summarizes the history and current practices of neck dissection. It discusses the evolution of neck dissection from the 19th century, when it was considered incurable, to the 21st century, where it remains an important prognostic indicator. It outlines the modern classification of neck dissection levels and types, including radical, modified radical, selective, and extended dissections. Finally, it reviews sentinel lymph node biopsy for early stage head and neck cancers, noting various techniques used and sensitivity ranges reported.
Otoacoustic emissions (OAEs) are sounds produced by the inner ear that can be measured in the ear canal. There are different types of OAEs including spontaneous, stimulus frequency, transient evoked, and distortion product OAEs. OAEs are believed to be generated by outer hair cells in the cochlea. Brainstem auditory evoked response (BERA) involves recording electrical activity in the brainstem in response to auditory stimuli. BERA can help identify lesions in the auditory nerve or brainstem by analyzing latencies and amplitudes of waves I-V. Abnormal findings on OAEs or BERA can indicate conditions such as acoustic neuromas or other inner
This document discusses chronic otitis media (COM), a long-standing middle ear infection characterized by persistent ear discharge through a perforated eardrum. It defines the two main types - tubotympanic and atticoantral disease - and describes their signs, symptoms, causes, investigations, and treatment options including medical management and surgical procedures like myringoplasty, tympanoplasty, and ossiculoplasty. COM is more common in developing nations and usually starts in childhood, affecting hearing if left untreated. Accurate diagnosis involves examination, tests like audiograms and CT scans, and ruling out complications.
This document discusses various complications that can arise from chronic suppurative otitis media (CSOM). It describes intra-cranial and extra-cranial complications, including mastoiditis, facial nerve paralysis, labyrinthitis, petrositis, subperiosteal abscesses, meningitis, brain abscesses, otitic hydrocephalus, extradural abscesses, subdural abscesses, and lateral sinus thrombosis. For each complication, it discusses the pathology, clinical features, investigations, and treatment approaches.
Orbital Complications Of Acute RhinosinusitisPrasanna Datta
An 8-year-old girl presented with left eye swelling and pain for 4 days. She had symptoms of an upper respiratory tract infection 6 days prior. On examination, her left eye was swollen and erythemic and she could not open it due to pain. CT scan showed a left lateral orbit collection and sinusitis. She underwent incision and drainage of the orbital abscess and functional endoscopic sinus surgery. Her symptoms improved after surgery. Orbital cellulitis can develop from sinusitis due to connections between the sinuses and orbit via veins. Early diagnosis and treatment is important to prevent vision loss or other complications.
Endoscopic ear surgery has progressed significantly over the past century alongside improvements in microscopy and endoscopy. While microscopy revolutionized ear surgery in the 1950s-60s by enabling binocular visualization, endoscopy offers additional advantages for procedures with narrow surgical corridors like the external auditory canal. These include a wider field of view around corners and the ability to perform surgery using only the ear canal as an access point. This preserves normal anatomy and decreases the need for bone removal. The 1990s saw early adoption of endoscopy for procedures like second look mastoidectomies. Its use expanded in the 2000s as more surgeons incorporated the techniques. Today, endoscopy provides an alternative to microscopic visualization for select otologic
Navigating Neck : Important Land marks During SurgeryPrasanna Datta
The document provides information on the location and relationships of various cranial nerves in the neck. It discusses the locations of CN VII, IX-XII and their anatomical relationships. It also addresses surgical landmarks for lymph node levels and variations in nerve locations that are important to consider during neck dissection procedures.
1. Nasal masses can present with symptoms like nasal obstruction, rhinorrhea, congestion, hyposmia, and epistaxis. Physical examination may reveal facial swelling, proptosis, or diplopia depending on site and extent of the mass.
2. Nasal masses can be anatomical variants, inflammatory/infectious, congenital/developmental, or neoplasms. Common nasal masses include nasal polyps, inverted papilloma, juvenile angiofibroma, and lymphocytic hypophysitis.
3. Diagnostic evaluation includes nasal endoscopy, CT scan, and biopsy. CT is helpful for surgical planning. Differential diagnosis depends on clinical features and may
1. The patient presented with a neck lump, swelling or mass. A thorough history and physical examination was performed, including inspection of oral cavity and neck examination.
2. Diagnostic tests including bloodwork, imaging like ultrasound and biopsy if needed were used to characterize the mass and narrow the differential diagnosis. Common non-malignant causes included cysts, infections and congenital masses.
3. Malignant causes were also considered like lymphomas and metastatic lymph nodes, with further workup to identify a potential primary source. Treatment options varied depending on the diagnosis.
This document provides an overview of nasal polyps, including their definition, history, etiology, classification, clinical presentation, management, and theories of pathogenesis. Some key points:
- Nasal polyps are sacs of edematous nasal mucosa that can cause nasal obstruction. They were first described over 4000 years ago in ancient Egypt.
- Nasal polyps are classified as simple/inflammatory, fungal, or malignant. Common types include ethmoidal and antrochoanal polyps.
- Theories of pathogenesis include adenoma fibroma theory, necrotizing ethmoiditis, glandular hyperplasia, and epithelial rupture theory. Allergies and infections are also implicated
This document summarizes the history, indications, techniques, and adjuvant therapies for tonsillectomy. It discusses the evolution of tonsillectomy from ancient techniques using fingers and knives to modern methods utilizing instruments like the tonsillotome. Key indications for tonsillectomy outlined include recurrent infection, sleep disorders, and airway obstruction. Innovative techniques described are intracapsular tonsillectomy using microdebriders or lasers, as well as coblation and harmonic scalpel methods. Studies show these new techniques reduce postoperative pain and recovery time compared to electrocautery. Adjuvant therapies explored are local anesthetics like bupivacaine and perioperative steroids like dexamethas
The document discusses the use of lasers in otolaryngology. It begins with an introduction to lasers and their principles. It then describes different types of lasers used including CO2, Nd:YAG, KTP, argon lasers and their properties. Applications of lasers in ENT are discussed including uses in otology like stapes surgery, external auditory canal procedures and middle ear surgery. Rhinology procedures like turbinate reduction and septal surgery are also covered. Uses of lasers in oral cavity, pharynx, larynx and neck are summarized. Safety considerations with lasers and their delivery systems are provided.
Orbit is a quadrilateral pyramidal cavity containing the eye. It has thin walls that are susceptible to infection, inflammation and neoplasia from adjacent sinonasal structures. Key surgical anatomy includes thin medial and inferior walls, lacrimal apparatus, extraocular muscles and neurovascular supply. Sinonasal pathology such as mucocoeles, chronic dacrocystitis and tumors can spread to the orbit. Trauma or endoscopic sinus surgery can also cause orbital complications requiring reconstruction or decompression. Imaging guides management of orbital pathology and involvement in sinonasal disease.
This document provides an overview of imaging techniques for the ear, nose, paranasal sinuses, and larynx. It describes various radiographic views for visualizing different structures, including the lateral, Caldwell, Waters, and submental vertical views. Computed tomography is described as the gold standard for preoperative evaluation. CT protocols include coronal and axial scans. Anatomical structures seen on different views and cuts are outlined in detail. Common anatomical variations are also discussed, along with the Keros classification system for olfactory fossa depth.
This document provides an overview of tumor staging for head and neck cancers. It describes the major sites in the upper aerodigestive tract including the oral cavity, oropharynx, hypopharynx, larynx, nasopharynx, and nasal cavity/paranasal sinuses. For each site, it discusses patterns of spread and common treatments. It also introduces the TNM staging system and neck lymph node levels used to classify head and neck cancers.
Vocal fold polyps are one of the most common benign laryngeal lesions. They are generally caused by phonotrauma but can also be associated with smoking, gastroesophageal reflux, or respiratory activities. Histologically, polyps show swelling in the lamina propria and an increase in blood vessels. While some studies find no difference between polyp and nodule histology, others demonstrate morphological changes in polyp tissue. Surgery is often used to treat polyps but recent research shows speech therapy can also be effective as primary treatment, with total or partial regression of lesions in some cases. The literature review found discrepancies but also notable progress in otolaryngologic techniques and effectiveness of speech therapy as initial treatment
Congestive Heart failure is caused by low cardiac output and high sympathetic discharge. Diuretics reduce preload, ACE inhibitors lower afterload, beta blockers reduce sympathetic activity, and digitalis has inotropic effects. Newer medications target vasodilation and myosin activation to improve heart efficiency while lowering energy requirements. Combination therapy, following an assessment of cardiac function and volume status, is the most effective strategy to heart failure care.
The biomechanics of running involves the study of the mechanical principles underlying running movements. It includes the analysis of the running gait cycle, which consists of the stance phase (foot contact to push-off) and the swing phase (foot lift-off to next contact). Key aspects include kinematics (joint angles and movements, stride length and frequency) and kinetics (forces involved in running, including ground reaction and muscle forces). Understanding these factors helps in improving running performance, optimizing technique, and preventing injuries.
Giloy in Ayurveda - Classical Categorization and SynonymsPlanet Ayurveda
Giloy, also known as Guduchi or Amrita in classical Ayurvedic texts, is a revered herb renowned for its myriad health benefits. It is categorized as a Rasayana, meaning it has rejuvenating properties that enhance vitality and longevity. Giloy is celebrated for its ability to boost the immune system, detoxify the body, and promote overall wellness. Its anti-inflammatory, antipyretic, and antioxidant properties make it a staple in managing conditions like fever, diabetes, and stress. The versatility and efficacy of Giloy in supporting health naturally highlight its importance in Ayurveda. At Planet Ayurveda, we provide a comprehensive range of health services and 100% herbal supplements that harness the power of natural ingredients like Giloy. Our products are globally available and affordable, ensuring that everyone can benefit from the ancient wisdom of Ayurveda. If you or your loved ones are dealing with health issues, contact Planet Ayurveda at 01725214040 to book an online video consultation with our professional doctors. Let us help you achieve optimal health and wellness naturally.
Dr. Tan's Balance Method.pdf (From Academy of Oriental Medicine at Austin)GeorgeKieling1
Home
Organization
Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
About AOMA: The Academy of Oriental Medicine at Austin offers a masters-level graduate program in acupuncture and Oriental medicine, preparing its students for careers as skilled, professional practitioners. AOMA is known for its internationally recognized faculty, award-winning student clinical internship program, and herbal medicine program. Since its founding in 1993, AOMA has grown rapidly in size and reputation, drawing students from around the nation and faculty from around the world. AOMA also conducts more than 20,000 patient visits annually in its student and professional clinics. AOMA collaborates with Western healthcare institutions including the Seton Family of Hospitals, and gives back to the community through partnerships with nonprofit organizations and by providing free and reduced price treatments to people who cannot afford them. The Academy of Oriental Medicine at Austin is located at 2700 West Anderson Lane. AOMA also serves patients and retail customers at its south Austin location, 4701 West Gate Blvd. For more information see www.aoma.edu or call 512-492-303434.
PGx Analysis in VarSeq: A User’s PerspectiveGolden Helix
Since our release of the PGx capabilities in VarSeq, we’ve had a few months to gather some insights from various use cases. Some users approach PGx workflows by means of array genotyping or what seems to be a growing trend of adding the star allele calling to the existing NGS pipeline for whole genome data. Luckily, both approaches are supported with the VarSeq software platform. The genotyping method being used will also dictate what the scope of the tertiary analysis will be. For example, are your PGx reports a standalone pipeline or would your lab’s goal be to handle a dual-purpose workflow and report on PGx + Diagnostic findings.
The purpose of this webcast is to:
Discuss and demonstrate the approaches with array and NGS genotyping methods for star allele calling to prep for downstream analysis.
Following genotyping, explore alternative tertiary workflow concepts in VarSeq to handle PGx reporting.
Moreover, we will include insights users will need to consider when validating their PGx workflow for all possible star alleles and options you have for automating your PGx analysis for large number of samples. Please join us for a session dedicated to the application of star allele genotyping and subsequent PGx workflows in our VarSeq software.
Selective alpha1 blockers are Prazosin, Terazosin, Doxazosin, Tamsulosin and Silodosin majorly used to treat BPH, also hypertension, PTSD, Raynaud's phenomenon, CHF
Storyboard on Acne-Innovative Learning-M. pharm. (2nd sem.) CosmeticsMuskanShingari
Acne is a common skin condition that occurs when hair follicles become clogged with oil and dead skin cells. It typically manifests as pimples, blackheads, or whiteheads, often on the face, chest, shoulders, or back. Acne can range from mild to severe and may cause emotional distress and scarring in some cases.
**Causes:**
1. **Excess Oil Production:** Hormonal changes during adolescence or certain times in adulthood can increase sebum (oil) production, leading to clogged pores.
2. **Clogged Pores:** When dead skin cells and oil block hair follicles, bacteria (usually Propionibacterium acnes) can thrive, causing inflammation and acne lesions.
3. **Hormonal Factors:** Fluctuations in hormone levels, such as during puberty, menstrual cycles, pregnancy, or certain medical conditions, can contribute to acne.
4. **Genetics:** A family history of acne can increase the likelihood of developing the condition.
**Types of Acne:**
- **Whiteheads:** Closed plugged pores.
- **Blackheads:** Open plugged pores with a dark surface.
- **Papules:** Small red, tender bumps.
- **Pustules:** Pimples with pus at their tips.
- **Nodules:** Large, solid, painful lumps beneath the surface.
- **Cysts:** Painful, pus-filled lumps beneath the surface that can cause scarring.
**Treatment:**
Treatment depends on the severity and type of acne but may include:
- **Topical Treatments:** Such as benzoyl peroxide, salicylic acid, or retinoids to reduce bacteria and unclog pores.
- **Oral Medications:** Antibiotics or oral contraceptives for hormonal acne.
- **Procedures:** Such as chemical peels, extraction of comedones, or light therapy for more severe cases.
**Prevention and Management:**
- **Cleanse:** Regularly wash skin with a gentle cleanser.
- **Moisturize:** Use non-comedogenic moisturizers to keep skin hydrated without clogging pores.
- **Avoid Irritants:** Such as harsh cosmetics or excessive scrubbing.
- **Sun Protection:** Use sunscreen to prevent exacerbation of acne scars and inflammation.
Acne treatment can take time, and consistency in skincare routines and treatments is crucial. Consulting a dermatologist can help tailor a treatment plan that suits individual needs and reduces the risk of scarring or long-term skin damage.
Osvaldo Bernardo Muchanga-GASTROINTESTINAL INFECTIONS AND GASTRITIS-2024.pdfOsvaldo Bernardo Muchanga
GASTROINTESTINAL INFECTIONS AND GASTRITIS
Osvaldo Bernardo Muchanga
Gastrointestinal Infections
GASTROINTESTINAL INFECTIONS result from the ingestion of pathogens that cause infections at the level of this tract, generally being transmitted by food, water and hands contaminated by microorganisms such as E. coli, Salmonella, Shigella, Vibrio cholerae, Campylobacter, Staphylococcus, Rotavirus among others that are generally contained in feces, thus configuring a FECAL-ORAL type of transmission.
Among the factors that lead to the occurrence of gastrointestinal infections are the hygienic and sanitary deficiencies that characterize our markets and other places where raw or cooked food is sold, poor environmental sanitation in communities, deficiencies in water treatment (or in the process of its plumbing), risky hygienic-sanitary habits (not washing hands after major and/or minor needs), among others.
These are generally consequences (signs and symptoms) resulting from gastrointestinal infections: diarrhea, vomiting, fever and malaise, among others.
The treatment consists of replacing lost liquids and electrolytes (drinking drinking water and other recommended liquids, including consumption of juicy fruits such as papayas, apples, pears, among others that contain water in their composition).
To prevent this, it is necessary to promote health education, improve the hygienic-sanitary conditions of markets and communities in general as a way of promoting, preserving and prolonging PUBLIC HEALTH.
Gastritis and Gastric Health
Gastric Health is one of the most relevant concerns in human health, with gastrointestinal infections being among the main illnesses that affect humans.
Among gastric problems, we have GASTRITIS AND GASTRIC ULCERS as the main public health problems. Gastritis and gastric ulcers normally result from inflammation and corrosion of the walls of the stomach (gastric mucosa) and are generally associated (caused) by the bacterium Helicobacter pylor, which, according to the literature, this bacterium settles on these walls (of the stomach) and starts to release urease that ends up altering the normal pH of the stomach (acid), which leads to inflammation and corrosion of the mucous membranes and consequent gastritis or ulcers, respectively.
In addition to bacterial infections, gastritis and gastric ulcers are associated with several factors, with emphasis on prolonged fasting, chemical substances including drugs, alcohol, foods with strong seasonings including chilli, which ends up causing inflammation of the stomach walls and/or corrosion. of the same, resulting in the appearance of wounds and consequent gastritis or ulcers, respectively.
Among patients with gastritis and/or ulcers, one of the dilemmas is associated with the foods to consume in order to minimize the sensation of pain and discomfort.
The Children are very vulnerable to get affected with respiratory disease.
In our country, the respiratory Disease conditions are consider as major cause for mortality and Morbidity in Child.
CLASSIFICATION OF H1 ANTIHISTAMINICS-
FIRST GENERATION ANTIHISTAMINICS-
1)HIGHLY SEDATIVE-DIPHENHYDRAMINE,DIMENHYDRINATE,PROMETHAZINE,HYDROXYZINE 2)MODERATELY SEDATIVE- PHENARIMINE,CYPROHEPTADINE, MECLIZINE,CINNARIZINE
3)MILD SEDATIVE-CHLORPHENIRAMINE,DEXCHLORPHENIRAMINE
TRIPROLIDINE,CLEMASTINE
SECOND GENERATION ANTIHISTAMINICS-FEXOFENADINE,
LORATADINE,DESLORATADINE,CETIRIZINE,LEVOCETIRIZINE,
AZELASTINE,MIZOLASTINE,EBASTINE,RUPATADINE. Mechanism of action of 2nd generation antihistaminics-
These drugs competitively antagonize actions of
histamine at the H1 receptors.
Pharmacological actions-
Antagonism of histamine-The H1 antagonists effectively block histamine induced bronchoconstriction, contraction of intestinal and other smooth muscle and triple response especially wheal, flare and itch. Constriction of larger blood vessel by histamine is also antagonized.
2) Antiallergic actions-Many manifestations of immediate hypersensitivity (type I reactions)are suppressed. Urticaria, itching and angioedema are well controlled.3) CNS action-The older antihistamines produce variable degree of CNS depression.But in case of 2nd gen antihistaminics there is less CNS depressant property as these cross BBB to significantly lesser extent.
4) Anticholinergic action- many H1 blockers
in addition antagonize muscarinic actions of ACh. BUT IN 2ND gen histaminics there is Higher H1 selectivitiy : no anticholinergic side effects
Applications of NMR in Protein Structure Prediction.pptxAnagha R Anil
This presentation explores the pivotal role of Nuclear Magnetic Resonance (NMR) spectroscopy in predicting protein structures. It delves into the methodologies, advancements, and applications of NMR in determining the three-dimensional configurations of proteins, which is crucial for understanding their function and interactions.
Milan J. Anadkat, MD, and Dale V. Reisner discuss generalized pustular psoriasis in this CME activity titled "Supporting Patient-Centered Care in Generalized Pustular Psoriasis: Communications Strategies to Improve Shared Decision-Making." For the full presentation, please visit us at www.peervoice.com/HUM870.
Supporting Patient-Centered Care in Generalized Pustular Psoriasis: Communica...
Congenital craniofacial malformations
1. Congenital
craniofacial
malformations
Dr. T. Balasubramanian M.S. D.L.O.
This e book describes various craniopharyngeal malformations, their mode of
inheritance and their classification. An attempt is also made to discuss the
variations which are possible in these patients
2010
drtbalu
Drtbalu’s otolaryngology resources
2/21/2010
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Introduction:
Craniofacial malformations are usually caused by misregulation
of normal tissue patterning. These malformations are usually
defined by their effect on the gross anatomy of the area and
the phenotypic abnormalities documented. Work is in progress
to elucidate the molecular basis for these phenotypic
abnormalities.
Inside the uterus signals for growth and differentiation of
the fetus are usually relayed from outside the cell, through the
plasma membrane and cytoplasm, into the nucleus. These
signals regulate and co-ordinate genetic expression and tissue
differentiation, similarly from the nucleus information passes
outwards to alter the Cytoplasmic structures, modulating the
cellular response to the incoming signals, and also serves to co-
ordinate the activities of other cells nearby as well as distant
ones.
These signals are also known as Ligands. Ligands are of two
types:
Diffusible Ligands: Growth factors classically belong to this
group. Ligands belonging to this group are highly diffusible in
the lipid matrix. They help in signal transmission from the
outside. These Ligands begin signal transduction process by
binding to specific receptors present over the cell membrane.
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These receptors are known as transmembrane receptors.
These receptors have three portions:
a. Extracellular domain: This is present over the exterior of
cell membrane. This is where the diffusible ligand is
supposed to get attached.
b. Transmembrane domain: This portion of the receptor
spans the whole thickness of the cell membrane. It is in
physical contact with the extracellular domain present
outside.
c. Intracellular domain: This domain is present within the cell
and is responsible for changes that occur within the cell.
This domain is in physical contact with the transmembrane
domain.
Binding of a ligand to the extracellular domain will cause
phosphorylation of the intracellular domain leading on to
phosphorylation of intracellular substrates and also alters the
activity of other intracellular proteins.
Stationary Ligands: This in comparison to the diffuse Ligands
doesn’t usually diffuse into the cell. Examples of these Ligands
include matrix associated proteins. Classic matrix associated
proteins include the fibroblast growth factors (which are
responsible for the growth and differentiation of fibroblasts),
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Bone morphogenic factor (causing tissues to differentiate into
bones).
These Ligands thus cause changes in protein activity, controls
cell proliferation, migration, differentiation, symmetry and
sometimes even apoptosis. Co-ordination of all these cellular
process is a must for development of facial skeleton.
Derangements of this co-ordinated signaling process can lead
to craniofacial malformations.
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a. The ectodermal layer that provides the surface cover. This
layer also interacts with mesodermal layer helping to
pattern the developing structures.
b. Neural crest layer that provides for most of the facial
mesenchyme.
c. The paraxial / prechordal mesenchyme contribute to the
development of craniofacial musculature.
The first sign of development of face is the formation of a small
pit called as stomodeum. Stomodeum lies just below the
developing brain. The ectoderm that overlies the developing
forebrain extends into the stomodeum. At the stomodeum it
lies adjacent to the developing foregut. The junction between
the ectoderm and the adjacent endoderm is known as the
oropharyngeal membrane. The line of attachment of the
oropharyngeal membrane corresponds to the future
Waldayer’s ring.
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Figure showing development of nasal placodes
This oropharyngeal membrane undergoes spontaneous
dissolution during the 4th
week of gestation. This dissolution
permits communication between the mouth and foregut. The
Waldayer’s ring connects the nasopharyngeal tonsil, lingual
tonsil and the palatine tonsils.
It is during this 4th
week of intrauterine gestation the neural
crest cells start to migrate to the developing face from the
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lower portion of forebrain and upper midbrain areas. These
neural crest cells are a vital source for facial connective tissue
(which includes cartilage, bone and ligaments). Since these
migrating neural crest cells arise from different portions of the
developing brain they carry with them different developmental
programmes according to their site of origin. Mutations
involving these migrating neural crest cells may cause various
anamolies involving the facial structures.
This 4th
week of gestation is really crucial in the development
of facial structures. It is during this period that 5 processes
develop to surround the developing stomodeum. A single
unpaired frontonasal process lies in the midline just above the
stomodeum (future mouth). Embryologically this process arises
from the forebrain. Paired maxillary prominences lie on either
side of stomodeum superiorly and paired mandibular
prominences lie on either side of stomodeum inferiorly. These
two paired processes arise from the first branchial arch.
It is during the embryological window spanning between 4 –
8 weeks, the median frontonasal process give rise to median
facial structures, and the paired maxillary and mandibular
arches / processes give rise to lateral facial structures. Hence it
should be borne in mind that malformations usually involve
either median or lateral structures separately or the junctional
areas.
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Development of nose and nasal cavity:
At the end of the 4th
week paired ectodermal thickenings
appear on the surface of the frontonasal process, just
superolateral to the stomodeum at 1 o’clock and 11 o’clock
positions. These thickenings known as nasal placodes gives rise
to the future nose and nasal cavity. Lens placodes also develop
during the same embryological window. Developments of
nasal and lens placodes are dependent on the paired Box gene
Pax 6. In the absence of this gene neither the nasal nor the lens
placode can develop.
During the 5th
week of gestation the mesenchyme present
over the margins of nasal placodes begins to proliferate to form
horse shoe shaped projections. The medial limbs of the horse
shoe projections are known as nasomedial process, and the
lateral limbs are designated as nasolateral process. The
nasomedial processes are larger than nasolateral processes.
Tissues surrounding the optic and nasal placodes enlarge
causing the nasal pit area to form recess known as nasal pits.
These nasal pits give rise to future nose and nasal cavities.
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During the 4th
and 5th
weeks of gestation the mandibular
processes begin to enlarge on both sides, merging with each
other in the midline. This merger takes place between 6th
to 8
weeks forming the mental area of the lower jaw. Incomplete
fusion of this area leads to the formation of the dimple in the
chin area. The paired maxillary processes grow towards each
other and towards the paired nasomedial processes. The
maxillary processes eventually give rise to lateral 2/3 of upper
jaw. It also gives rise to the upper dentition except for the
incisors. The nasolateral processes at the 6th
week merges with
the maxillary process to form the ala of the nose.
At the junction between the maxillary and the lateral nasal
process lies the nasolacrimal groove. These grooves extend
between the developing nose and eyes. The ectodermal lining
of this groove give rise to nasolacrimal ducts and nasolacrimal
sacs. The nasolacrimal ducts extends from the medial corners
of the eye up to the inferior meatus in the lateral nasal wall.
Cheeks and corners of the mouth develop from fusion of
maxillary and mandibular processes. Development of upper lip
is usually complete by the 8th
week of intrauterine life. The
nasomedial processes merge with the superficial regions of
maxillary processes. This line of merger is known as the lines of
fusion. These areas are represented as furrows / folds after
completion of development. The nasomedial processes also
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merge with each other across midline to form the
intermaxillary segment. This fusion displaces the frontonasal
prominence posteriorly. Hence the frontonasal prominence
doesn’t contribute to the definitive upper lip, jaw or nasal tip.
During the 7th
week Pinna begins to develop. It develops from
6 mesenchymal hillocks which form around the first pharyngeal
groove. Three of these hillocks (auricular) develop from the
first pharyngeal arch and the other three develop from the
second pharyngeal arch. These 6 auricular hillocks merge with
each other to form the pinna. The groove between these
hillocks gives rise to the external auditory canal.
After the formation of facial structures is completed,
mesodermal tissue from the first and second arches begin to
invade to give rise to the muscles of facial expression and
muscles of mastication. The relative size of these facial
structures undergoes change during life. The mid portion of
the face remains underdeveloped during embryogenesis but
completes its development much later. The mandible also is
relatively small but catches up in proportional size later.
Signaling process responsible for the development of face:
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Development of face is dependent on molecular signals for
normal patterning and growth to take place. These molecular
signals include:
1. Mesodermal and ectodermal interactions – This is highly
critical for normal tissue patterning to occur.
2. Hedgehogs – These are three in number i.e. sonic
hedgehog, Desert hedgehog and Indian hedgehog. These
hedgehogs play a vital role in the development of brain
and face in vertebrates. Among these three protein
molecules the most extensively studied is the sonic
hedgehog. This molecule could also be considered to be a
morphogen as it is responsible for the normal
development of facial structures. Lewis Wolpert designed
a model known as French flag model to illustrate the
morphogenic effects of sonic hedgehog. Sonic hedgehog
diffuses into the developing tissues effecting different
effects on the stem cells depending on its concentration.
French flag model proposed by Wolpert represents the
various effects of morphogen concentration on the
developing tissues. These effects are conveniently
represented by the different colors of the French flag.
High concentrations of sonic hedgehog activate a blue
gene, while lower concentrations activate a white gene.
The default state of the cell is described as red color.
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Diagram showing the French flag model
3. Fibroblast growth factors – are heparin binding proteins
capable of biding to cell surface associated heparin sulfate
proteoglycans. This binding is essential for molecular
signal transduction into the cell. In humans 22 different
types of fibroblast growth factors have been identified to
be responsible for facial development.
4. Retinoic acid signaling – This is a metabolite of vitamin A.
It is responsible for signals controlling cell proliferation and
differentiation.
5. Aristaless like homeobox genes – These genes are
responsible for neuronal development.
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As far as facial development is concerned, the sonic hedgehog
is the morphogenic organizer; fibroblast growth factors are
responsible for mesenchymal growth. Facial malformations are
known to occur due to deficiency or excess of molecular
signaling.
It has been demonstrated in experimental animals that
reduced retinoic acid signaling caused a reduction in sonic
hedgehog and fibroblast growth factors causing hypoplastic
forebrain, fused eyes and absence of structures developed
from the frontonasal process. Timely replacement of retinoic
acid prevented this malformation from occurring. On the
contrary excess stimulation by sonic hedgehog causes excessive
fronto nasal growth, leading on to widening of the frontonasal
process. This process in turn leads to the failure of palatal
shelves to abut causing cleft palate. Excess fronto nasal growth
may also lead to duplication of midfacial structures.
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Development of palate: Palatal development usually begins
between the 7th
and 10th
weeks of intrauterine life. Its origin
generally begins from three primodia, unpaired median
palatine process and a paired lateral palatine process. These
processes fuse in midline to form the palate. The median
palatine process originates from the nasomedial process. The
median palatine process grows posteriorly to form a triangular
primary palate which is bony in nature. In adults this zone is
known as the premaxillary component of the maxilla. It gives
rise to the upper 4 incisor teeth. The incisive foramen forms
the posterior extent of the premaxilla.
Diagram showing development of palatine processes
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The lateral palatine process begin appear during the 6th
week
of gestation and grows downwards vertically on either side of
the tongue.
Factors responsible for palatal development include:
1. Ectodermal – mesenchymal interaction
2. Epidermal growth factor
3. Transforming growth factor α
The development of palatal process begins with the hydration
of hyaluronic acid within the palatal shelves. This process
causes an intrinsic shelf elevating force causing the palatal
shelves to elevate from their early vertical position to a
horizontal position above the dorsum of the tongue.
Development of nasal cavities and nasal septum:
Development of nose usually begins during the 5th
week of
gestation as nasal pits. These pits begin to deepen towards the
oral cavity. By the 7th
week of gestation only a thin oronasal
membrane separates the nasal and oral cavities. The oronasal
membrane eventually breaks down and these two cavities
communicate with each other through the future choanal area.
The fusion of palatal processes lengthens the nasal cavity
pushing the choanal orifice posteriorly. Nasal septum develops
from the frontonasal process to reach the palatal shelves.
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Anteriorly the septum is continuous with the primary palate.
Fusion of palatal plates begin posterior to the incisive foramen
and extends in anterior and posterior directions.
Development of facial skeleton: Facial skeleton develops from
the cartilage of nasal capsule. The bony portions of the facial
skeleton appear around the nasal capsule and may also replace
it in parts. The lateral ethmoidal masses develop from
enchondral ossification of the nasal capsule. The frontal
process of maxilla, premaxillary bone, nasal bones, lacrimal
bones and palatine bones are formed by membranous
ossification of the roof and lateral wall of the nasal capsule.
The vomer develops from the perichondrium of the septal
process. Finally nearly the entire nasal capsule except for a few
portions becomes ossified / atrophied. The remaining part of
the nasal capsule includes the anterior portion of the nasal
septum and the alar cartilages that surround the nasal
vestibule. The sepal cartilage in the midline at birth is directly
continuous with the cartilaginous skull base.
The skull base ossifies from three centers:
1. Basiocciput
2. Basisphenoid
3. Presphenoid
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4. Mesethmoidal centre (Develops during the 1st
year after
birth). This center gives rise to the perpendicular plate of
ethmoid.
At birth the septal cartilage is not ossified, the lateral ethmoidal
masses are ossified. The cribriform plate is still cartilaginous or
fibrous. Radiologically the whole face at birth would appear
like a midline radiolucent strip with lateral ethmoidal masses.
This may even mimic a midline defect of face in plain
radiographs.
The nasal septal cartilage extends along midline from
anterior nares to the presphenoid bone. Anteriorly and
inferiorly the septal cartilage is attached to the premaxilla by
fibrous tissue. Posteriorly the septal cartilage is continuous
with the cartilage of skull base. Inferiorly the lower edge of
septal cartilage is slotted into the vomerine groove. After birth
the unossified portion of septal cartilage (posterosuperior
portion) extends between the perpendicular plate of ethmoid
and vomer. This portion of the septal cartilage is known as
sphenoidal tail of septal cartilage. The ossifying portion of the
perpendicular plate of ethmoid is separated from the facial
skeleton by the unossified cartilage of the cribriform plate of
ethmoid and the sphenoidal tail of the cartilaginous portion of
nasal septum. Later the perpendicular plate of ethmoid bone
unites with the vomerine groove below. When this union takes
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place the vomerine groove gets converted into a tubular
vomerine tunnel. This tunnel should radiologically not be
confused with the bony canal around dermal sinus or
encephalocele.
Diagrammatic representation of various centers of ossification
of face
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The nasal septum appears differently according to the patient’s
age in imaging. Hence caution must be exercised before
interpreting midline defects of face.
This Coronal CT of a 4 month old infant shows the following
features:
1 – Unossified cribriform plate
2 - Ossified lateral ethmoidal centers
3 – Ossified vomer
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Coronal CT of 5 month old infant shows the following:
1 – Wide midportion of nasal septum (septal diamond)
2 - Ossification of palatal shelves
Coronal CT of 6 month old infant showing a bilamellar nasal
septum (arrow) “vomerine groove”.
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Features of facial skeleton in less than 1 year old infant:
1. Lateral ethmoidal centers are ossified
2. Nasal septum and anterior cranial fosse are not ossified in
midline
3. Cribriform plate is not ossified in infants less than 2
months of age
4. Crista galli gets ossified only from the age of 2
5. Ossification centers in crista, cribriform plate, and
perpendicular plate of ethmoid lead to the formation of a
bony “crystal cross” during the 4th
month after birth. The
whole process of this ossification is complete by the 11
month
6. Nasal septum is wide at the midpoint of its vertical height.
This is known as the septal diamond. Septum usually
buckles in this area
7. Ossified vomer shows a “v” or “y” shaped superior border
in this age group
8. There is no midline ossification in children under the age
of 1. This should not construed as a radiological
abnormality
9. The ethmoidal labyrinth is asymmetric. This accounts for
the asymmetry of the foveal region.
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Coronal CT image of 8 month old infant showing a partially
ossified crista galli
Coronal CT image of 9 month old infant showing crystal cross
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Coronal CT image of an infant showing:
Y shaped ossification of vomer (yellow arrow).
1 – Bilamellar ossification of perpendicular plate of ethmoid
Torus Palatinus:
This is a benign thickening of cortical and medullary bone of
hard palate. It is covered by pale and thin mucosa. It usually
aligns along the median intermaxillary / interpalatine suture
line. It protrudes downwards from the apex of the palatine
arch. It extends symmetrically on both sides. These tori have a
triangular / diamond configuration. The nasal aspect of hard
palate is spared. Usually the following regions are spared:
1. Region of palatal rugae
2. Region of greater palatine foramen
Torus maxillaris are multiple hyperostoses arising from the
alveolar portion of maxilla, usually in the molar region.
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Figure showing Torus palatinus
If torus maxillaris arises from the lingual surface of dental arch
it is known as Torus maxillaris internus. This usually arises
opposite to the roots of the molars. Torus maxillaris externus
arises from the buccal aspect of the superior alveolar ridge.
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CT scan showing torus palatinus
Torus mandibularis is unilateral / bilateral hyperostosis
occurring along the lingual surface of the mandible between
the alveolar border and mylohyoid line. Usually they are
commonly present close to the apex of second premolar
opposite to the mental foramen. Torus maxillaris and torus
mandibularis are commonly found in patients with torus
palatinus. These tori may be associated with thick posterior
wall of glenoid fossa. Tori usually grow as the patient grows
and stabilizes when the patient reaches the age of 30. Tori are
usually found in 2% of new born children. It is twice as
common in females.
Classification of torus palatinus:
Torus palatinus may be classified into 4 types:
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Flat torus: This is a smooth, symmetrical, and broad based,
convex exostosis seen involving the palate close to the midline.
It is oriented along the interpalatine and intermaxillary suture
line.
Spindle torus: This is usually a midline palatine ridge containing
prominent median groove. It is bilateral in origin. It is also
known as cresta palatine.
Nodular torus: These are multiple exostoses involving the
palate. They appear as multiple discrete protuberances.
Lobular torus: This is a mushroom shaped exostosis involving
the palate. This usually arises from a single base but may form
multiple secondary nodules. These nodules are separated by
deep grooves.
Exostosis may cause stretching of mucosa leading on to
ulceration. Dentures may be ill fitting.
Facial clefts:
These are usually caused by:
1. Deranged development of frontonasal process
2. Failure of frontonasal process and lateral nasal processes
to fuse.
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Insufficient development of frontonasal and nasomedial
processes results in:
1. Hypoplasia of nose
2. Absence of nose & intermaxillary segment
3. Rectangular defect in the middle third of the face
4. Absence of incisors
5. Absence of primary palate
6. Secondary palatal clefts
7. Hypertelorism
The above said are the features of holoprocencephaly.
Failure of two nasomedial processes to merge in midline
produces the rare true midline cleft lip, cleft palate and
Hypertelorism. This is classically associated with clefting of
primary palate, diastasis of median incisors, double frenulum of
upper lip, dehiscence of skull base and basal encephaloceles.
True midline cleft is a feature of Mohr syndrome.
Failure of nasomedial processes to fuse with maxillary
processes in one or both sides will cause the rather common
unilateral / bilateral cleft lip and palate.
Failure of the nasolateral process to merge with the maxillary
process causes an oblique facial cleft extending from the inner
canthus of the eye to the nose. This cleft may also be
associated with bilateral cleft lip and palate.
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Failure of merger of mandibular and maxillary processes usually
causes transverse facial cleft. This condition is also known as
macrostomia / wolf mouth. Transverse clefts may be an
isolated occurrence or be part of syndromes such as Hemifacial
microsomia.
Figure showing cleft palate
Clefts that occur away from the known lines of fusion are
caused by amniotic band syndrome.
Cleft lip / Palate:
Clefts involving lip and palate account for nearly 90% of all
facial clefts. These clefts may involve lip only, lip and palate,
palate only. They can be unilateral / bilateral. Non syndromic
cleft lip and palate is really common.
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Pathogenesis of cleft lip / palate: Both genetics and
environment play a role in the development of cleft lip / palate.
The risk of clefting of lip / palate is 4% if one parent or one
sibling is involved. This percentage increases to 20% if both
one parent and one sibling are affected. This indicates role
played by hereditary factors. Administration of B6 and folic acid
during the 1st
trimester of pregnancy reduces the risk of cleft lip
/ palate. Teratogens have been linked with facial clefting.
These include cortisone, phenytoin, and salicylates. Maternal
smoking during 1st
trimester is a well known risk factor.
Studies have shown that there were significant elevation of
lactate dehydrogenase and creatinine phosphokinase in
amniotic fluid of clefted fetuses. Genes responsible for non
syndromic orofacial clefting has been identified. These genes
are named as OFC1, OFC2 and OFC3.
Clinical features of cleft lip / palate: In addition to the aesthetic
problems cleft palate also causes functional problems since it
interferes with sucking and speech.
Other features include midfacial regression, dental
malocclusion and Eustachian tube dysfunction.
Cleft lip:
Clefts involving the lip could be complete, incomplete,
unilateral, or bilateral. Distortions caused to the lip tissue due
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to clefting vary with the severity. Complete unilateral clefts
involving lip extends from the floor of the nostril through the lip
to a point just below the nostril. Lip is shortened on both sides
of the cleft. This shortening is usually asymmetrical, greater
shortening occurring on the medial side of the cleft. The
normal landmarks of lip like the vermilion skin border and
vermilion mucosal borders are distorted. The vermilion tapers
upwards along the cleft towards the nasal cavity. The
underlying lip muscles do not decussate but runs parallel to the
cleft and gets inserted into the base of the ala. This distortion
of muscle causes a bulge in the segment of lip lateral to the
cleft. This bulge is known as the orbicularis bulge. Patients
with incomplete cleft show less degree of tissue distortion. The
central lip segment i.e. prolabium has no underlying muscle but
only fibrous tissue.
Unilateral cleft lip
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Changes in maxilla associated with cleft palate:
Maxilla in patients with cleft palate shows varying degrees of
Hypoplasia. This causes midfacial Hypoplasia. On the side of
the cleft the anterior hemimaxilla shows a narrowed curvature
(arch collapse) and upward tilting of premaxillary segment. The
inferior end of the nasal septum usually lies on the side of the
cleft, while the anterior nasal spine of the maxilla is always on
the non cleft side. These asymmetric changes in the maxilla
have been attributed to the pushing effect of the tongue.
Changes in the Nose in patients with facial clefts:
In unilateral clefts on the ipsilateral side the angle between
the medial and lateral crura is obtuse. The ala is displaced
caudally with the absence of alar facial groove. The alar facial
attachment is at an obtuse angle. The naris is retro displaced
causing an increase in its circumference. The nasal septum is
deflected towards the side of the cleft. The nasal pyramid also
deviates to the side of the cleft.
In patients with bilateral clefts the nose appears shortened.
The columella is deficient centrally with splaying of alar
cartilages. The nasal septum may be in midline. These
distortions create flat blunted nose with wide nostrils.
Malformations associated with facial clefts:
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Associated malformations are common in patients with
isolated cleft palate than in those with combined clefting of lip
and palate. Anomalies include facial, ear, eye, skeletal system,
urogenital and cardiovascular system.
Median cleft lip and associated syndromes:
This is a rare anomaly related to midline craniofacial –
cerebral dysraphism. A high percent of median cleft lip
syndrome are products of twin gestation, the other twin is
usually normal. A considerable number of these patients may
feature orofacial digital syndrome. Neurological symptoms are
not part of this group of syndromes. IQ of these patients has
no relationship with the severity of clefting.
Midline craniofacial dysraphisms fall into 2 groups:
Group A:
Inferior group: Clefting primarily involves the upper lip with or
without the involvement of the nose. This group is associated
with basal encephaloceles, callosal agenesis, and optic nerve
dysplasias such as optic pits, colobomas, megallopapilla, and
Morning glory syndrome.
The lip defect may range from:
1. small notch
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2. Vertical linear cleft
3. Small triangular deficiency of vermillion border of upper lip
with absent labial tubercle. This is infact the true midline
cleft of lip.
Group B:
Superior group: Clefting primarily involves the nose with or
without involvement of forehead or upper lip. This group is
characterized by hypertelorism, a broad nasal root, median
cleft of the nose, and median cleft involving the premaxilla.
These patients have increased incidence of frontonasal and
intraorbital encephaloceles, anophthalmos, microphthalmos
and callosal lipomas.
Characteristic features of patients belonging to this group
include:
1. Hypertelorism
2. Cranium bifidum occulta frontalis
3. Widow’s peak hair line
4. Midline clefting of nose with / without associated clefting
of lip and premaxilla
5. Notching of ala nasi
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DeMyer classification of Group B midline clefts:
Type I facies: This type is characterized by Hypertelorism,
median complete clefting of nose, absence, Hypoplasia or
median clefting of upper lip and pre maxilla, cranium bifidum.
Type II facies: This type is associated with
1. Hypertelorism
2. Median cleft nose
3. There is no median clefting of upper lip and premaxilla
4. Cranium bifidum may be present or absent
Type III facies: This type is characterized by
1. Hypertelorism
2. Median cleft nose and upper lip with or without
premaxillary clefting
3. No median cleft palate
4. No cranium bifidum
Type IV facies: Is featured by
1. Hypertelorism
2. Median clefting of nose
3. No clefting of upper lip, premaxilla or palate
4. No cranium bifidum
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Sedano classification: This classification attaches importance to
notching of ala nasi.
Type A facies: This type is characterized by
a. Hypertelorism
b. Broadening of nasal root
c. Deep facial groove / true cleft of nose and upper lip
d. Anterior cranium bifidum may be present
Type B facies: Features of this group include
a. Hypertelorism
b. Broad nasal root
c. Deep facial groove / true cleft of nose and upper lip
d. Anterior cranium bifidum may or may not be present
Type C facies: Features of this group includes
a. Hypertelorism
b. Broad nasal root
c. Nasal alar notching unilateral or bilateral
d. Anterior cranium bifidum may / may not be present
Type D type includes features of both B and C.
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Transverse facial clefts: These clefts represent the failure of
maxillary and mandibular processes to form the corner of the
mouth and cheek.
Clefts involving the lower lip and mandible:
Midline clefts involving the lower lip and mandible are very
rare in humans. These clefts could vary between a simple
notch involving the vermilion border of lower lip to a complete
cleft of lower lip, mandible and all the associated supporting
structures. Complete clefting may involve the tongue, neck
hyoid and manubrium sternum.
Clefting involving the neck may be associated with cysts,
chords, contractures and midline dermoids. Lower midline
clefts may also be associated with clefting of upper lip and
nose.
Mutations involving sonic hedgehog and homeobox genes
have been associated with clefting of lower lip, mandible and
neck. It has also been proved that exposure to plant alkaloid
jervine causes this type of clefting due to inhibition of end
organ response to sonic hedgehog.
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Amniotic band syndrome: Rupture of amnion causes a series of
events known as amniotic band disruption complex. In this
syndrome bands of amnion may form causing disruption to the
normal development, changes in the morphology of the fetus
and may also cause disruption of previously formed parts also.
Facial clefts in these patients may be caused by a strand of
amnion present between the developing facial processes
preventing their fusion. This causes clefting. Sometimes
amniotic bands may cleave through a non fusion region causing
clefting in non fusion areas. The timing of rupture of amnion is
important in the pathogenesis of facial clefting. Facial clefting
is common when amnion ruptures within first 45 days.
Ruptures occurring later than 45 days are not known to cause
facial clefting. Defects involving the central nervous system
and skull are also common when rupture occurs within 45 days
of gestation. CNS defects include anencephaly, cephalocele
and hydrocephalus.
Nasal dermal sinuses / cysts / Heterotopias / cephaloceles:
In embryonic stage the developing frontal bones are
separated from each other by a small fontanelle called as
fonticulus frontonasalis. The nasal bones are separated from
the adjacent cartilaginous nasal capsule by a prenasal space.
This potential space extends from the brain to the nasal tip.
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Small midline diverticula of dura normally extend anteriorly
into the fonticulus frontonasalis and inferiorly into the prenasal
space.
Diagram depicting embryology of frontal area of face
The prenasal space gets obliterated due to the development of
upper lateral nasal cartilage from the nasal capsule, along with
the development of ethmoidal bone. At the level of skull base
the ethmoid bones and the frontal bones close together over a
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strand of dura leaving a small opening known as foramen
caecum. Through this foramen a small vein usually passes.
If the dural diverticula becomes adherent to the ectoderm it
may not regress, on the contrary could pull the ectoderm as it
retracts creating an ectodermal tract extending from the
glabella to the crista galli. This tract may sometimes extend
further upwards in to the interdural space between the two falx
cerebri.
Similarly a persistent tract may extend from the external
surface of the nose under the nasal bones / through them into
the prenasal space & into the cranial cavity through the crista
galli. This tract is usually associated with a wide foramen
cecum, and distortion of the crista galli.
MRI showing dermoid tract extending from dorsum of nose
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Pit over the dorsum of nose indicates the dermoid tract
opening
Sometimes these tracts may become adherent to the brain
tissue itself. Sometimes remnants of these tracts form
epidermoid cysts, dermoid sinuses or fibrous cords.
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Formation of nasal encephaloceles and nasal gliomas:
Nasal gliomas and encephaloceles arise from a similar
mechanism described above. Histologically it is pretty
impossible to differentiate these two entities. If the dural
diverticula contain leptomeninges, CSF and neural tissue it
would constitute a glabellar or nasal menigoencephalocele.
If this developing structure gets pinched off from the brain
tissue, and gets isolated from the cranial cavity and forms a
heterotopic focus of meninges and brain tissue at the level of
glabella and nose.
Figure showing encephalocele
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Figure showing intranasal encephalocele
Dermoids and sinuses involving the skull:
Dermoids involving skull are usually related to neural tube
closure, and lines of sutures of skull bones. Dermoids involving
skull are classified into:
1. Midline dermoids: Commonly affects anterior fontanelle,
glabella, nasion and vertex.
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2. Fronto temporal dermoids: affects sphenofrontal,
frontozygomatic and sphenosquamosal sutures.
Commonly frontotemporal dermoids are single slow
growing asymptomatic lesions clustering around the
eyebrows.
3. Parietal dermoids: affects squamosal, coronal, lambdoid
and parietomastoid sutures.
4. Orbital dermoids: are commonly single, slow growing
masses involving the orbit. These masses occur commonly
lateral to the midaxis of the globe.
Nasal dermal sinuses: are small epithelium lined tubes arising
from a small opening situated along the dorsum of the nose.
This sinus may also reach the intradural space also. These
sinuses can coexist with nasal dermoids and epidermoid cysts.
These sinuses could be part of certain syndromes like
Hemifacial microsomia, frontonasal dysplasia, oro-facial-digital
syndrome type I, or part of VATER syndrome (vertebral defects,
imperforate anus, tracheo oesophageal fistula, radial and renal
dysplasia).
Nasal dermoid cysts and epidermoid cysts usually cluster
around the midline area just superior to the tip of the nose, the
junction of upper and lower lateral cartilages and near the
medial canthus.
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Nasal dermoid cyst just above the nasal tip
Epidermoid cysts are more common over the glabella nasion
area whereas dermoid cysts are common over the bridge of the
nose. Nasal dermal cysts and sinuses are detected early in life
sometimes as early as 3 years of age. There may be associated
intermittent discharge from these masses with widening of the
dorsum of the nose. There may be associated episodes of
recurrent meningitis, or behavioral change due to frontal lobe
abscesses. The ostium of the sinus may be very small and may
become visible only on applying pressure over the dorsum of
the nose. Fluid may extrude out of this ostium when pressure
is applied over the dorsum of the nose.
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Commonly nasal dermoids are confined to skin. Intracranial
extension of these sinuses is common in patients with multiple
anomaly syndromes.
Surgical resection of these cysts is indicated for the following
reasons:
1. Cosmesis
2. To avoid / treat complications like local infections
3. To avoid / treat meningitis
4. To prevent later development of cerebral abscess
Imaging usually clearly visualizes the complete tract and any
infections associated with it. The ostium and tract usually
appears as isodense fibrous channels, dermoid cysts and its
channels usually appear radiolucent. Uncomplicated dermoid
cysts usually appear like a radiolucent mass in images,
surrounded by a well defined capsule. Signs of inflammation
around the mass will clearly be evident as radio dense areas.
Demonstration of enlarged foramen cecum, or distorted crista
galli during imaging usually suggests intracranial extension.
Nasal gliomas (Heterotopia):
These are congenital masses of glial tissue occurring either
intranasally or extranasally close to the root of the nose. They
may or may not be connected to the brain by glial tissue. They
don’t contain CSF filled spaces. Gliomas are usually solid
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masses of glial tissue. The differentiating feature between
gliomas and encephalocele is the present of CSF in the latter.
Nasal gliomas are usually classified into:
1. Extranasal: gliomas lie external to the nasal bones / nasal
cavities. These gliomas classically appear over the dorsum
of the nose on either side of midline. Sometimes these
gliomas can be found close to the inner canthus of the eye.
These masses are not pulsatile and don’t show cough
reflex. These masses don’t show increase in size when the
jugular vein is compressed (negative Furstenberg sign).
Due to their progressive increase in size Hypertelorism is
common in these patients due to splaying of nasal bones.
2. Intranasal: gliomas lie within the nose and nasopharyngeal
cavities. They usually present as large polypoidal
submucosal masses. These masses can lead to nasal
obstruction, obstruction to nasolacrimal duct causing
epiphora. These intranasal gliomas are usually firm in
consistency, and are situated medial to the middle
turbinate where as nasal polypi are soft and lie
inferolateral to the middle turbinate. As a routine nasal
gliomas are present in infancy in contrast to nasal polypi
which present rather late.
3. Mixed: These gliomas contain both extranasal and
intranasal components. These two components
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communicate via a defect in the nasal bones or around
their lateral edges.
Histologically, these gliomas resemble reactive gliosis rather
than neoplasia.
Non nasal heterotopias: Gliomas / Heterotopic brain tissue
have been identified in non nasal sites like orbit, hard palate,
soft palate, pterygopalatine fossa, nasopharynx, tongue, upper
lip and lungs. Histologically non nasal gliomas show advanced
cellular differentiation in to neural components.
Epignathus teratoma: These are congenital teratomas of
oropharynx seen commonly in females. These teratomas are
more frequent in children of younger mothers. These children
have history of elevated levels of alpha fetoprotein and
polyhydramnios due to swallowing difficulties inutero.
These tumors are classically single masses attached to the
skull base in the midline of posterior wall of nasopharynx close
to Rathke’s pouch. Large tumors may extend intracranial via
the craniopharyngeal canal and could extend inferiorly to
involve palate and oral cavity.
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Epulis: The term Epulis is derived from the Greek word
meaning “on the gum” or “gum boil”. Congenital epulis is a
rare tumor affecting the gingiva of infants. These lesions could
be single / multiple and are common in girls than boys. These
lesions commonly involve the upper jaw more frequently.
These lesions are not associated with Hypoplasia of teeth.
These lesions may undergo spontaneous resolution. It does not
recur after surgical resection. Histologically these lesions
appear as large cells with eosinophilic cytoplasm.
Cephaloceles:
These are congenital herniations of intracranial contents
through a cranial defect. If the herniations contain only
meninges then it is known as cranial menigocele, if the content
is brain then it is known as menigoencephalocele. These
cephaloceles can be classified according to the site of
herniations.
1. Occipital cephalocele
2. Cephaloceles of cranial vault
3. Sincipital cephaloceles
4. Basal cephaloceles
5. Cephaloceles associated with cranioschisis
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Sincipital encephaloceles: These are situated in the anterior
part of the skull. Since this falls within the realm of
otolaryngologist this has been taken up for detailed discussion
here. This type of encephalocele can be further subdivided into
interfrontal and frontoethmoidal types.
Interfrontal cephalocele: This usually presents as midline mass
anteriorly above the frontonasal suture. The skull defect lies
between two frontal bones.
Frontoethmoidal encephalocele: These cephaloceles pass out
through a defect at the junction of frontal and ethmoidal bones
anterior to cribriform plate of ethmoid. These encephaloceles
can further be sub classified into naso frontal, naso orbital and
naso ethmoidal subtypes depending on the exact point of
herniations. In almost all these patients the crista galli was
found to be normal and the edge of the defect was funnel
shaped. These cephaloceles usually demonstrate two ostia i.e.
internal and external. Commonly the internal ostium is single
opening centered close to foramen cecum anterior to crista
galli. The external ostia may be single / multiple present in
different locations.
Classification of external ostia:
Boonvisut classified external ostia into type I and II. Type I
ostia is a single opening present between two adjacent bones.
Type II ostia are multiple ostia clustered in the same region.
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Fronto nasal type of encephalocele: This cephalocele emerges
from the bony canal between the frontal and nasal bones. In
these patients frontal bones would be seen to be displaced
superiorly, while the nasal bones /frontonasal process of
maxilla / nasal cartilages are displaced inferiorly. This
displacement creates space for expansion of the mass. In these
patients normal relationship of bones of nose is maintained.
This expansile mass usually lies in the glabellar region or root of
the nose. The mass can be small / larger than the size of the
head of the infant. As the mass enlarges in size it causes
distortion of the orbit leading on to increased interpupillary
distance i.e. telecanthus. The size of the mass is directly
proportional to intracranial tension. The size of the internal
ostium does not determine the size of the mass. Most
frontonasal cephaloceles are firm / solid. If they are firm they
don’t manifest transmitted pulsations, or show increase in size
on respiration. If these masses are cystic in nature they can be
compressed, and shows transmitted pulsations. They also
increase in size during inspiration. These masses usually grow
as the child grows. Cystic masses usually show
disproportionate increase in size due to accumulation of CSF
inside these masses. If these cystic masses are covered with
skin, it may rupture leading onto CSF leak.
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Internal carotid artery may lie perilously close of the internal
ostium. This anatomical aspect should be borne in mind while
operating on these patients.
Naso ethmoidal cephalocele: Cephaloceles belonging to this
category exits out of the skull through a bony canal between
the nasal bones and nasal cartilage. The nasal bones and
frontonasal process of maxilla remains attached to the frontal
bone in these patients. The nasal cartilages, septum and
ethmoid bones are displaced postero inferiorly. The bony
defect is usually circular and is present between the orbits and
increases inter orbital distance. The cribriform plate is normal
in position in relation to orbits. The dorsum of nose is widened.
These patients also have hydrocephalus commonly.
Naso orbital cephalocele: These cephaloceles emerge from a
bony canal lying between the medial wall of orbit between
lacrimal and maxillary bones. Fronto nasal process of maxilla is
abnormal and is displaced antero medially. This process forms
the anterior margin of the defect. The lacrimal bone and
lamina papyracea are displaced posterolaterally and forms the
posterior margin of the defect. These cephaloceles commonly
induce abnormalities of facial skeleton. These patients have
Hypoplasia of frontal and maxillary sinuses.
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Basal cephaloceles: These cephaloceles protrude through skull
base. These include spheno orbital, spheno maxillary and
spheno pharyngeal cephaloceles. These cephaloceles are
usually not visible externally unless they grow in size enough to
protrude through the nose / mouth.
Spheno orbital cephaloceles: protrusion occurs via the superior
orbital fissure and presents posterior to the orbit. Infants with
this type of cephaloceles manifest with proptosis. Protrusion of
eye ball increases when the patient performs Valsalva
maneuver.
Sphenomaxillary cephaloceles: This type of cephaloceles exit
the skull via the superior orbital fissure extends inferiorly into
the inferior orbital fissure to extend into the pterygopalatine
fossa.
Sphenopharyngeal cephaloceles: These cephaloceles exit from
the skull between sphenoid and ethmoid bones. This group can
further be subdivided into anterior and posterior groups.
Anterior group is also known as trans ethmoidal cephalocele.
Cephaloceles of this type extend downward anteriorly through
a skull defect along the cribriform plate of ethmoid bone. The
herniated sac may extend into the nasal cavity and paranasal
sinuses. Sella is not involved in this group of patients.
Posterior group is known as trans sphenoidal cephalocele.
These cephaloceles exit through defects in the sella to enter the
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nasal cavity. If these patients have associated cleft palate these
masses could present as oropharyngeal mass. Patients with
trans sphenoidal cephalocele have associated hypopituitarism,
Hypertelorism, and optic nerve coloboma.
Dacryocystoceles: These are distended lacrimal duct / sac due
to imperforate naso lacrimal system. These patients manifest
with nasal obstruction. These cysts present as bluish mass
close to the medial canthus of the eye. They are usually
unilateral in nature. Lacrimal production is fully mature at
birth. Tear secretions begin immediately after birth.
Imperforate naso lacrimal duct causes formation of
Dacryocystoceles. Incidence of dacryocystocele is very high in
preterm infants.
Facial / branchial arch syndromes: First and second arch
syndromes manifest as hypoplasia of maxillary and mandibular
arches. Variations of these syndromes are caused by
differences in the time of insult with respect to neural cell
migration. Neural crest cells destined to the first and second
arches begin to migrate during the 6th
– 7th
somite stage of the
embryo. Exposure to retinoic acid at this stage or just before
would cause Goldenhar syndrome.
Goldenhar syndrome: Also known as Oculo-Auriculo-Vertebral
syndrome. This syndrome is characterized by incomplete
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development of ear, nose, soft palate, lip, and mandible. This
syndrome commonly involves one side of the body. This
condition also goes under the name Hemifacial Microsomia.
This is the second most common facial birth defect ranking next
only to cleft lip and palate. Curiously males are commonly
affected than females.
This condition was first described by Goldenhar. He
described a triad of epibulbar choristomas, preauricular skin
appendages, and mandibulofacial dysostosis. To this triad
Gorlin added vertebral anomalies which were found commonly
in these patients and rechristened this syndrome as Oculo-
Auriculo-Vertebral dysplasia. He also included Hemifacial
microsomia, transverse facial clefts in this syndrome.
Development of Oculo-auricular-vertebral complex takes place
during the 4th
week of gestation.
Pathogenesis of Goldenhar syndrome:
1. It could result from interference to blood supply to this
region, probably the primordial stapedial artery could be
the culprit.
2. Any local hemorrhage in this area can lead to this
syndrome
3. Impaired interaction between neural crest cells with the
mesoderm of the 1st
and 2nd
arches
4. Mutations involving Msx genes.
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Clinical features:
1. Facial asymmetry is commonly seen in 70% of these
patients. This may not be appreciable at birth but will
clearly manifest within the first 4 years of life.
2. Hypoplasia of face may be predominantly horizontal /
vertical / mixed. Predominant hypoplasia could be clearly
seen along the oblique line extending between the
malformed pinna and the angle of the mouth.
3. Right side of the face is commonly affected
4. In the upper third of face zygoma and lateral portion of
the maxilla are affected
5. Orbits usually are symmetrical with a normal inter orbital
distance
6. Nose and the columella deviate to the hypoplastic side
7. In lower portion of the face mandible is more severely
affected. Mandibular hypoplasia causes the most facial
distortion in these patients. The ramus of the mandible is
severely hypoplastic in comparison with the body. This
adds more to the asymmetry.
8. Temporo mandibular joints get displaced antero inferiorly
9. Muscles of mastication are severely hypoplastic, in
proportion to the mandibular hypoplasia.
10. Skin tags may be found between the malformed ear
and the corner of the mouth
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11. Mouth usually has short transverse dimension
(microstomia).
12. Cleft lip and cleft palate are common in these
patients
13. Tongue and palatal muscles may be paralyzed /
hypoplastic
14. Palate usually deviates to the affected side
15. Velopharyngeal insufficiency is common in a large
majority of these patients
16. Dental maturation is usually asymmetric in these
patients with defective primary enamel
Deformities of Ear: Can be classified for the sake of
convenience and better understanding into deformities
involving the external ear, middle ear and inner ear.
Microtia: This term is applied to a pinna which is small /
distorted. Non syndromic Microtia occurs in 0.01% of all new
born. More than 3% of patients with Goldenhar syndrome
have Microtia. Microtia in Goldenhar syndrome is commonly
unilateral. Severity of malformation of external canal is usually
proportional to that of Microtia.
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Figure showing severe Microtia with non developed external
auditory canal
Malformations involving middle ear: This usually parallels
severity of Microtia and mandibular hypoplasia. Radiologically
ossicles of middle ear are abnormal in 70% of these patients.
Only about a third of patients with Goldenhar syndrome have
normal hearing, the rest show sensorineural / mixed /
conductive hearing losses of varying degrees.
Malformations involving inner ear: Cochlea & vestibule may be
abnormal / absent in these patients. The internal auditory
canal may be shorter, narrower and inclined upwards. 7th
nerve palsy is seen in 50% of these patients and correlates with
the degree of Microtia.
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Deformities involving eye: Characteristic ocular abnormalities
seen in patients with Goldenhar syndrome include:
1. Epibulbar choristomas
2. Colobomas of upper eye lid – Seen in 70% of patients with
Goldenhar syndrome. These colobomas usually occur at
the medial third of the upper eyelid.
3. Impaired ocular mobility – May include estropia, exotropia
and Duane’s retraction syndrome caused by hypoplasia of
oculomotor nerve or its nuclei.
Esotropia is a type of squint in which one / both eyes turn
inwards giving a cross eyed appearance.
4. Dacryostenosis
5. Limbal dermoids
Deformities involving skull:
Plagiocephaly – This deformity which involves the frontal bones
are seen in 20% of patients with Goldenhar syndrome. Frontal
bone in this condition on the side of the Hemifacial Microsomia
shows deformity.
Treacher Collins syndrome:
This condition is also known as Mandibulofacial dysostosis.
Features of this syndrome include:
1. Malar bone hypoplasia
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2. Hypoplasia of ramus of mandible
3. Antimongoloid slant of palpebral fissures
4. Obliteration of fronto nasal angle
5. Colobomas of lateral third of lower eyelid
6. Abnormal eye lashes
7. Inferior extension of hair line on to cheeks
8. Malformed pinna / external auditory canal
9. Hypoplasia of orbit
Genetics: This is an autosomal dominant syndrome seen in 1 in
50,000 live births. Offending gene has been identified as TCS
gene (Treacher Collin syndrome gene) at chromosome 5q31.
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Differences between Goldenhar syndrome and Treacher Collins
syndrome:
Goldenhar syndrome Treacher Collins syndrome
Mandibles asymmetric
bilaterally
Mandibles symmetric
bilaterally
Colobomas common in upper
eyelid
Colobomas common in lower
eyelid
No Antimongoloid stance of
palpebral fissures
Antimongoloid stance of
palpebral fissures seen
Malar hypoplasia uncommon Malar hypoplasia common
Lack of clear cut inheritance
pattern
Inherited as an autosomal
dominant trait
Choristomas and skin tags
frequent
Choristomas and skin tags rare
Branchio Oto renal syndrome: (Ear pits deafness syndrome)
Melnick-Fraser syndrome
This syndrome is characterized by:
1. Anomalies involving ear
2. Hearing loss
3. Preauricular pits
4. Branchial fistulae
5. Lacrimal duct stenosis
6. Renal dysplasia
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The term Branchio is used to refer second branchial arch
anomalies.
Genetics: This syndrome is inherited as autosomal dominant
trait with high degree of penetration. Gene involved in this
mutation is EYA 1 gene.
Nager Acrofacial dysostosis syndrome:
This type of mandibulofacial dysostosis is associated with radial
defects. Cranio facial defects include mandibular and malar
hypoplasia. These patients also have malformed pinna,
external auditory canal and conductive deafness. The palpebral
fissures are downwardly slanted with absent eyelashes in the
medial third of lower eyelids.
These patients also manifest microstomia and cleft palate. A
tongue shaped extension of hair can be seen extending up to
the level of cheek.
Radial defects include absent thumb and other abnormalities
of the hand.
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Pierre Robin Syndrome:
Features of this syndrome include:
1. Micrognathia – Abnormally small lower jaw
2. Glossoptosis – downward displacement of tongue
3. Cleft palate
4. More common in girls
Clinical features:
These patients have –
1. Feeding / breathing difficulties because of Micrognathia
2. Recurrent attacks of cyanosis
3. Cleft palate
This condition should not be considered to be a syndrome at all
as they can occur in other syndromes / isolated sequential
manner. Apt word to describe this condition could be Pierre
Robin sequence.
Pierre Robin sequence has classically been observed in the
following syndromes:
1. Stickler syndrome
2. Velo-cardio facial syndrome
3. Fetal alcohol syndrome
4. Treacher syndrome
It can also occur in an isolated manner.
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Children affected by this syndrome often reach their full
developmental size. Their growth rate is slightly below normal
because of the inherent chronic hypoxia these children suffer
from. Lack of adequate nutrition due to feeding disability also
adds to their woes.
Premature cranial synostosis:
This condition is characterized by premature closure of one or
more cranial sutures. The cause could be multifarious.
Classification:
Can be classified into:
1. Primary cranial synostosis – This condition occurs in the
absence of underlying brain / metabolic disorder. This
type of cranial synostosis can occur in isolation (non
syndromic) or as part of syndromes.
2. Secondary cranial synostosis – occurs as a result of
reduced intracranial volume, hydrocephalus shunting, or
cerebral insult. Metabolic synostosis is also included in
this group. This is caused by Rickets, hypophosphatasia,
hyperthyroidism and idiopathic hypercalcemia.
The cranial sutures becomes narrower gradually and the
fontanelles smaller and shallower. Closure of these sutures
does not involve the entire depth in one go but occur gradually.
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Fusion starts ideally from the inner endosteal layer and occurs
in an orderly manner where as the outer enchondral layer may
show variations in fusion rates. The fontanelles close early.
Their closure calendar is as given below:
1. Posterior fontanelle closes by 8th
week
2. Anterior fontanelle by 15 – 18 months
3. Antero lateral fontanelle by 3rd
month
4. Posterior fontanelle by 2 years
5. Mendosal suture closes within weeks after birth
6. Metopic suture starts to close during the 2nd
year and
fuses completely by the age of 3.
7. The sagittal, coronal and lambdoid sutures may close very
late. They may last till early adulthood.
Lateral view of skull showing various sutures
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Superior view of skull showing various sutures
Various skull shapes which are caused due to suture closure
variations:
Scaphocephaly: This skull shape also goes by the name Canoe
head / Dolicocephaly. In these patients the skull gets elongated
in an antero posterior direction, causing a relative narrowing in
a transverse dimension. This condition is usually caused by
premature closure of sagittal suture. Other rare causes include
head deformity due to prematurity, soft bones, the infant
assuming a prolonged decubitus position as in the case of those
in neonatal intensive care units.
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Trigonocephaly: This deformity is also known as axe skull / keel
shaped skull. This type of skull has sharp anteriorly directed
ridge over the frontal bone. This condition is commonly caused
by metopic synostosis.
Brachycephaly: This condition is signified by abnormal
widening of transverse diameter of the skull with shortened
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antero posterior dimension. This condition is caused by
premature closure of coronal / lambdoid sutures causing
shortening of antero posterior dimension.
Oxycephaly: This condition is also known as Turricephaly /
Tower head. This condition is characterized by superior
elongation of the skull. This condition is usually associated with
bilateral coronal / bilateral lambdoid synostosis. This
premature fusion causes redirection of growth of brain
anteriorly towards the anterior fontanelle complex or
posteriorly towards the posterior fontanelle complex.
Plagiocephaly: This condition is characterized by asymmetry of
skull. This asymmetry could be caused due to:
1. Positional deformation
2. Unilateral suture synostosis
3. Asynchronous synostosis of multiple sutures
Clover leaf skull: In this condition the skull appears like a clover
leaf. In these patients this type of skull causes severe
constriction to normal brain growth. This type of skull is
commonly seen in syndromic forms of craniosynostosis.
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Non syndromic primary craniosynostosis: This category
constitutes 85% of all primary craniosynostosis. In this category
premature closure of Sagittal, coronal, and metopic sutures are
more common, while premature closure of lambdoid suture is
least common.
Premature Sagittal stenosis is the most common form of
craniosynostosis in this category. It constitutes nearly 70% of
all craniosynostosis in this category. Nearly 10% of these cases
are familial with autosomal dominant inheritance. It is
common in male children (70% more common). Suture closure
in these patients occurs soon after birth restricting transverse
growth of the skull, hence these patients manifest with
scaphocephaly. A prominent palpable projection / ridge may
mark the area of premature closure. Compensatory growth
involving coronal / lambdoid sutures may cause frontal or
occipital bossing (prominence). The anterior fontanelles in
these patients are often found closed. Orbits in these patients
are found to be not involved and the forehead will be seen
projecting farther than that of the orbit. In these patients
fortunately concurrent abnormalities of brain are not common.
Premature unilateral coronal synostoses are the second
commonest of Non syndromic primary craniosynostosis. These
patients form 20% of this category. Most of these cases occur
sporadically, with a slight female preponderance. Unilateral
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synostosis causes growth restriction on one side only leading
on to flattening of forehead, orbit and zygoma on the affected
side. Eye and eyebrows on the affected side is displaced
upwards and backwards causing (Harlequin eye). These
patients show contralateral compensatory bossing involving the
frontal bone. This leads to displacement of contralateral eye
inferolaterally. Maxilla on the side of involvement may show
hypoplasia in the vertical plane. Pinna on the side of hypoplasia
will be seen to be displaced antero inferiorly. Anterior
fontanelle is found to be deviated to the opposite side.
Majority of these patients also have wry neck (torticollis).
Premature Metopic synostosis constitutes 5% of all Non
syndromic primary craniosynostosis. This condition is inherited
as an autosomal dominant trait. These patients have closure of
metopic sutures prematurely. This leads to hypoplasia of
frontal bones. These patients have symmetric lateral sloping of
forehead. Even though crista galli is intact in these patients,
ethmoidal sinuses show marked hypoplasia. Medial walls of
orbit show extensive thickening and increased vertical height.
Intracranial anomalies, hypoplasia of frontal lobes of brain are
also seen in these patients.
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Syndromic craniosynostosis (Craniofacial dysostosis):
This group includes syndromes that manifest with
craniofacial synostosis as one of its dominant components.
About 60 syndromes with craniosynostosis have been
described. Classifications of craniofacial dysostosis are based
on the name of the describing author, place where this
syndrome was first identified. These syndromes are caused by
faulty genes involved in Fibroblast Growth Factor Receptor.
Classical nomenclature for these syndromes includes:
1. Crouzon syndrome
2. Apert syndrome
3. Boston syndrome
4. Jackson Weiss syndrome
Among these syndromes only the Apert syndrome manifests
consistent genetics.
Pathophysiology:
Pathophysiology of craniofacial dysostosis can be understood
by studying in detail the underlying molecular genetics of these
syndromes. For premature closure of cranial sutures Fibroblast
Growth Factor Receptors play an important role. There are 4
types of Fibroblast Growth Factor Receptors that are coded by
unlinked genes (FGFR1-FGFR4). Among these genes FGFR 1, 2,
and 3 are linked to cranial suture closure. These genes encode
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tyrosine kinase receptors. These receptors are located over the
cell membrane and have a three part structure. The three parts
include:
1. Extracellular portion
2. Transcellular / Bridging portion
3. Intracellular portion
These receptors are controlled / activated by Ligands which
gets attached to the extracellular portion. In craniofacial
dysostosis mutations that occur in Fibroblast Growth Factor
Receptor genes create abnormal proteins that allow the
receptors to function even in the absence of Ligand stimulation,
otherwise put these mutant genes are always on (energized
state) causing premature closure of cranial sutures.
Cruzon syndrome: This is considered to be one of the most
frequently occurring craniofacial dysostosis. It was first
described by Cruzon in 1912. This condition is inherited as an
autosomal dominant trait with variable penetration.
This syndrome is characterized by bilateral coronal synostosis
with a brachycephalic / oxycephalic vault. The sagittal and
lambdoid sutures may also be affected. These sutures are not
fused immediately after birth, but progressively undergo fusion
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after the 1st
year of birth. These patients have maxillary
hypoplasia, shallow orbits, and Hypertelorism. These patients
have partially obstructed nasal passages. Associated
intracranial abnormalities are also common in these patients.
Hydrocephalous if present is progressive in nature needing
surgical intervention.
List of other abnormalities:
1. Arnold chiari malformation
2. Calcified stylohoid ligament
3. Exophthalmos
4. Mandibular prognathism
5. Exposure keratitis of cornea
6. External auditory canal atresia
7. Jugular venous stenosis
Apert syndrome: This syndrome is also known as
acrocephalosyndactlyly type I. This is an autosomal dominant
type of cranio facial dysostosis. This condition is characterized
by symmetric syndactylism of hands / feet. These patients also
show bilateral coronal synostosis.
Other abnormalities seen in these patients include:
1. Midfacial hypoplasia
2. Bulging of eyes
3. Brain compression due to lack of intracranial space
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4. Cleft palate
5. Choanal stenosis
6. Eustachian tube dysfunction
7. Otitis media
8. Hydrocephalus
9. Fusion of cervical vertebrae
10. Ankylosis of elbows, hips and shoulders
Pfeiffer’s syndrome: This syndrome is autosomal dominantly
inherited form of craniostenosis. These patients have
Brachycephaly, short anterior fossa, prominent supra orbital
bar, Hypertelorism, Antimongoloid stance of eyes and a flat
nasal bridge.
Cohen’s classification: Cohen classified Pfeiffer’s syndrome into
three types.
Type I: is classic Pfeiffer’s syndrome with a good prognosis
Type II: is characterized by severe intracranial malformations
with poorer prognosis with clover skull deformity
Type III: is characterized by severe intracranial malformations
with poor prognosis without clover skull deformity.