This document introduces standardized terminology for describing features of the periorbital region. It defines several key anatomical structures such as the eyebrow, eyelid, lacrimal punctum, and palpebral fissure. The document then alphabetically defines and provides illustrations for over 20 morphological terms for describing characteristics of the periorbital region, such as blepharophimosis, ectropion, epicanthus, and telecanthus. The goal is to standardize terminology to improve communication and comparisons among clinicians and researchers studying human morphology and dysmorphology.
This document discusses radiographic interpretation and describes how to analyze lesions seen on radiographs. It explains that radiographs along with clinical information are used to formulate a differential diagnosis. It then describes the normal radiographic anatomy seen on x-rays. The document outlines a systematic process for interpreting periapical radiographs which involves describing the size, shape, location, density, borders, internal architecture, and effect on adjacent structures of any lesions. Specific examples are provided for analyzing each of these characteristics to determine possible diagnoses.
The document describes the anatomical features of the mandibular first and second premolars. It notes that the mandibular first premolar has a large buccal cusp, shorter mesiobuccal ridge, tapered lingual crown, and single-rooted tooth. The mandibular second premolar resembles the first premolar buccally but has variable lingual cusp morphology and wider dimensions mesiodistally and buccolingually with broader contact areas.
This document discusses Class II Division 2 malocclusion. Key points:
- Class II Division 2 is characterized by retroclined upper incisors and a retropositioned lower first molar. The overjet is usually minimal but may be increased.
- It has a prevalence of 1.5-17.7% and is highly associated with impacted canines.
- The etiology involves genetic and environmental factors like soft tissue pressures retroclining the upper incisors.
- Treatment aims to correct the skeletal and dental relationships, overbite, and achieve a functional occlusion. Options include growth modification, fixed appliances, orthognathic surgery, or a combination. Anchorage is
This document describes the anatomy and characteristics of the maxillary first molar tooth. It discusses the tooth's chronology, geometric outline, surface anatomy of the crown and roots, and root characteristics. The maxillary first molar has five surfaces, three roots, and a trapezoidal crown outline. It is the largest tooth in the maxillary arch and has four well-developed cusps and sometimes a supplemental fifth cusp.
Classification of malocclusion gallois 06 final bwAlly Rashid
This document provides an overview of malocclusion classification and describes various anatomical reference planes and dental relationships used in orthodontic assessment. It defines common skeletal, dental, and soft tissue deviations from normal occlusion, such as Class I-III malocclusions, open/deep bites, crossbites, overjets, and prognathism/retrognathism. The document emphasizes the importance of understanding a patient's unique skeletal pattern and dental deviations for developing an effective treatment plan.
The fat compartments of the face- anatomy and clinical implications for cosme...Nhat Nguyen
The document summarizes the results of a cadaver study investigating the anatomical compartments of subcutaneous fat in the face. The study found that the fat is partitioned into multiple, independent compartments rather than existing as a single confluent mass. Key findings include:
- The nasolabial fold, cheeks, forehead, and periorbital region each contain three distinct fat compartments.
- Compartments are separated by septal barriers that can fuse, forming ligament-like structures.
- Understanding the compartmentalization provides insights into how aging affects the face and considerations for cosmetic surgery.
This document discusses radiographic interpretation and describes how to analyze lesions seen on radiographs. It explains that radiographs along with clinical information are used to formulate a differential diagnosis. It then describes the normal radiographic anatomy seen on x-rays. The document outlines a systematic process for interpreting periapical radiographs which involves describing the size, shape, location, density, borders, internal architecture, and effect on adjacent structures of any lesions. Specific examples are provided for analyzing each of these characteristics to determine possible diagnoses.
The document describes the anatomical features of the mandibular first and second premolars. It notes that the mandibular first premolar has a large buccal cusp, shorter mesiobuccal ridge, tapered lingual crown, and single-rooted tooth. The mandibular second premolar resembles the first premolar buccally but has variable lingual cusp morphology and wider dimensions mesiodistally and buccolingually with broader contact areas.
This document discusses Class II Division 2 malocclusion. Key points:
- Class II Division 2 is characterized by retroclined upper incisors and a retropositioned lower first molar. The overjet is usually minimal but may be increased.
- It has a prevalence of 1.5-17.7% and is highly associated with impacted canines.
- The etiology involves genetic and environmental factors like soft tissue pressures retroclining the upper incisors.
- Treatment aims to correct the skeletal and dental relationships, overbite, and achieve a functional occlusion. Options include growth modification, fixed appliances, orthognathic surgery, or a combination. Anchorage is
This document describes the anatomy and characteristics of the maxillary first molar tooth. It discusses the tooth's chronology, geometric outline, surface anatomy of the crown and roots, and root characteristics. The maxillary first molar has five surfaces, three roots, and a trapezoidal crown outline. It is the largest tooth in the maxillary arch and has four well-developed cusps and sometimes a supplemental fifth cusp.
Classification of malocclusion gallois 06 final bwAlly Rashid
This document provides an overview of malocclusion classification and describes various anatomical reference planes and dental relationships used in orthodontic assessment. It defines common skeletal, dental, and soft tissue deviations from normal occlusion, such as Class I-III malocclusions, open/deep bites, crossbites, overjets, and prognathism/retrognathism. The document emphasizes the importance of understanding a patient's unique skeletal pattern and dental deviations for developing an effective treatment plan.
The fat compartments of the face- anatomy and clinical implications for cosme...Nhat Nguyen
The document summarizes the results of a cadaver study investigating the anatomical compartments of subcutaneous fat in the face. The study found that the fat is partitioned into multiple, independent compartments rather than existing as a single confluent mass. Key findings include:
- The nasolabial fold, cheeks, forehead, and periorbital region each contain three distinct fat compartments.
- Compartments are separated by septal barriers that can fuse, forming ligament-like structures.
- Understanding the compartmentalization provides insights into how aging affects the face and considerations for cosmetic surgery.
This document describes the Park Z-epicanthoplasty technique for modifying the epicanthal fold in Asian patients undergoing double eyelid surgery. Key points:
- The epicanthal fold is a skin flap covering part or all of the lacrimal lake. It is a distinguishing feature in many East Asian populations.
- The Park Z-epicanthoplasty involves making incisions within the eyelid skin to elevate and transpose the epicanthal flap, avoiding tension and visible scarring compared to other techniques.
- It is most useful for type II and III epicanthal folds in patients seeking a higher or outer-type double eyelid. Careful preoperative marking and precision inc
This document describes the anatomy and characteristics of the maxillary first molar tooth. It discusses the chronology of development, geometric outline of the crown from different aspects, outlines and surface anatomy of the crown and roots. Key points include that it has 5 surfaces, 3 roots, and a trapezoidal crown outline. The mesiolingual cusp is the largest cusp and there may or may not be a Carabelli cusp present. The occlusal surface has 2 major fossae, 2 minor fossae, and 5 developmental grooves. The mesial aspect has a nearly straight outline and flat surface.
The document contains radiographic images and interpretations of various radiolucent and radiopaque lesions in the jaw bones. Common findings included well-defined unilocular radiolucent lesions related to tooth roots with differential diagnoses of radicular cysts, granulomas, and odontogenic keratocysts. Other findings were ill-defined radiolucencies suggestive of malignancies, fractures, and cysts associated with impacted teeth. The document provides radiologists' interpretations of dental radiographs to identify normal and pathological findings in the oral cavity.
- The document describes the anatomical features of maxillary molars 6, 7, and 8 through diagrams, text descriptions, and comparisons of features between the different molars.
- Molar 6 has five surfaces, three roots, and distinctive features like cusp of Carabelli and four cusps connected by triangular ridges.
- Molar 7 is smaller than 6, has three cusps, no cusp of Carabelli, and roots that are closer together.
- Molar 8 usually has one large lingual cusp, fused roots, and numerous supplemental grooves on its occlusal surface.
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 discusses various conditions that can affect the tooth pulp and surrounding structures. It describes the normal anatomy of the pulp and defines different types of pulpitis. It then outlines several pathological conditions such as pulp necrosis, pulp polyps, periapical abscess, granuloma, and cysts. For each condition, it provides details on clinical features and radiographic appearances seen on dental imaging.
This document discusses the management of low angle cases (skeletal deep bites). It covers the etiology, which can include hereditary factors and horizontal growth patterns. Clinical features include a short square face, upper teeth hidden behind the lips, and decreased interlabial distance. Diagnostic features include decreased facial angles and a horizontal growth pattern seen on cephalograms. Management options discussed include removable appliances, growth modification, magnets, fixed appliances, implants, lingual appliances, Invisalign, and surgery. Stability and retention are also addressed.
morphology of mandibular 1st,2nd premolar teethAkram bhuiyan
This document describes the anatomical features of the mandibular first and second premolars. For the first premolar, it notes the presence of a large buccal cusp and smaller lingual cusp, as well as developmental grooves. The root has one root with a mesial groove. For the second premolar, it describes two common crown types - a 3-cusp and 2-cusp variation. The 3-cusp type has deep grooves forming a Y-shape and multiple fossae, while the 2-cusp type has a central groove. The root is larger and longer than the first premolar.
The mandibular central incisor is the narrowest tooth in the dentition. It has sharp mesioincisal and distoincisal angles and a shallow lingual fossa. The root is typically single and straight, tapering to a relatively sharp apex. The crown is wider labiolingually than mesiodistally. It erupts between ages 7-8 and completes root development by age 10.
This document summarizes genetic causes of hearing loss, including syndromic and non-syndromic forms. It discusses epidemiology, methods of study, specific syndromes (e.g. Alport, Usher, Waardenburg), non-syndromic forms, genes involved, and approaches to evaluation and management.
This document summarizes sensorineural hearing loss (SNHL) in children. It discusses the etiology, epidemiology, and causes of SNHL. For congenital SNHL, it describes genetic causes like autosomal dominant and recessive mutations, as well as non-genetic causes like viral infections and trauma during birth. Acquired SNHL is commonly caused by bacterial meningitis in young children. Ototoxic drugs are another significant cause of SNHL and the document lists several classes of drugs that can damage the inner ear. Imaging plays an important role in evaluating childhood SNHL to identify anomalies and guide treatment.
The COL11A2 gene codes for protein XI collagen which plays an important role in the structure and function of the inner ear. There are two common mutations in this gene that can cause congenital hearing loss - the replacement of arginine with cysteine at position 549 or glycine with glutamic acid at position 232. While there is no complete treatment, hearing aids or cochlear implants along with early oral communication treatment can help people with this condition lead normal lives. Current research focuses on gene therapy and stem cell regeneration of inner ear cells.
This document summarizes information about congenital hearing loss caused by mutations in the COL11A2 gene. The COL11A2 gene codes for a protein called XI Collagen that plays an important role in the structure and function of the inner ear. There are two common mutations - one replacing arginine with cysteine and the other replacing glycine with glutamic acid - that can damage the inner ear. While there is no cure, treatment options like hearing aids and cochlear implants can improve hearing. The COL11A2 gene mutation is dominantly inherited. With early treatment, people with this form of congenital hearing loss can live normal lives. Current research focuses on gene therapy and stem cell regeneration of inner ear cells
Hereditary hearing loss can be caused by genetic mutations and can be passed down from parents to children. The document discusses several types of genetic hearing loss including syndromic hearing loss which is accompanied by other health issues, and non-syndromic hearing loss which only involves hearing. Specific genetic disorders that can cause hearing loss, such as Waardenburg Syndrome and Stickler Syndrome, are explained. Mutations in the GJB2 and POU3F4 genes are highlighted as common causes of non-syndromic genetic hearing loss. The document provides an overview of genetic factors that can contribute to hearing impairment from birth or that develop later in life.
This document discusses deafness in children, including different types, causes, risk factors, screening, and management. It outlines types like conductive, sensory, and neural deafness. Causes include genetic disorders, infections, medications, and complications of prematurity. Early screening before age 2 is important for excellent outcomes, while detection after 5 leads to poorer results. Treatment involves identifying and addressing underlying causes, use of hearing aids, and in severe cases, cochlear implants.
Craniofacial syndromes /certified fixed orthodontic courses by Indian dental ...Indian dental academy
The document discusses various craniofacial syndromes and anomalies. It begins by introducing craniofacial anomalies and their significance. It then defines key terms like syndrome, anomaly, sequence, and association. It describes the four types of congenital anomalies: malformation, disruption, deformation, and dysplasia. It also discusses classifications of craniofacial syndromes and some specific syndromes associated with midfacial deficiencies like Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome. It provides details on the etiology, clinical features, dental anomalies, and treatment of these conditions.
This document provides an overview of the anatomy and physiology of the human eye. It describes the major internal and external structures of the eye, including the cornea, iris, lens, retina, rods and cones, and optic nerve. It explains how light enters the eye and is focused on the retina, and how visual signals are transmitted from the retina to the brain via the optic nerve. The document is intended to teach postgraduate students about the special sense of vision.
This document provides an overview of class III malocclusion. It begins with definitions of class III based on Angle classification, incisor classification, and canine classification. It then discusses the incidence of class III malocclusion, types, etiology, clinical features, diagnosis, and treatment options. For clinical features, it describes skeletal, soft tissue, dental, and cephalometric features as well as displacement and path of closure. It outlines treatment options such as growth modification, orthodontic camouflage, and orthognathic surgery. The document concludes with a declaration by the author.
This document provides an overview of the anatomy and physiology of the visual system for postgraduate students. It describes the main parts of the eye including the retina, rods and cones, lens, iris, and other structures. It explains how light is focused on the retina through refraction and the process of accommodation. Common vision conditions like myopia, hyperopia and presbyopia are also discussed. The document concludes with descriptions of the photoreceptor mechanism and how light triggers electrical responses in rods and cones that are transmitted to the brain.
This document discusses diagnostic records for orthodontic treatment planning. It emphasizes the importance of thorough evaluation of dental casts, facial and intraoral photographs, and radiographs to identify all dental, skeletal, and soft tissue problems. Cephalometric analysis and 3D imaging such as CBCT are described as useful tools to further characterize dentofacial proportions and anomalies. The goal of comprehensive diagnostic records is to complete the diagnostic phase of treatment planning by identifying all significant orthodontic problems to inform development of an appropriate treatment plan.
1. Palate orthopedic expansion is used to treat cases with a contracted maxilla under age 15-16 where the transverse discrepancy is over 5mm.
2. The procedure involves disjoining the palatal suture to allow expansion and widening of the maxilla, which improves nasal ventilation.
3. Effects are seen in the horizontal, frontal, and sagittal planes, with fanning of the midpalatal suture and downward divergence of the jaws.
The document summarizes key aspects of a seminar on rhinoplasty surgery:
1. It provides background on the history and development of rhinoplasty techniques dating back thousands of years.
2. Key anatomical structures of the nose are defined including the nasal vaults, skin, muscles, blood supply and important surgical considerations.
3. Surgical approaches, grafts, and post-operative care are briefly outlined.
This document describes the Park Z-epicanthoplasty technique for modifying the epicanthal fold in Asian patients undergoing double eyelid surgery. Key points:
- The epicanthal fold is a skin flap covering part or all of the lacrimal lake. It is a distinguishing feature in many East Asian populations.
- The Park Z-epicanthoplasty involves making incisions within the eyelid skin to elevate and transpose the epicanthal flap, avoiding tension and visible scarring compared to other techniques.
- It is most useful for type II and III epicanthal folds in patients seeking a higher or outer-type double eyelid. Careful preoperative marking and precision inc
This document describes the anatomy and characteristics of the maxillary first molar tooth. It discusses the chronology of development, geometric outline of the crown from different aspects, outlines and surface anatomy of the crown and roots. Key points include that it has 5 surfaces, 3 roots, and a trapezoidal crown outline. The mesiolingual cusp is the largest cusp and there may or may not be a Carabelli cusp present. The occlusal surface has 2 major fossae, 2 minor fossae, and 5 developmental grooves. The mesial aspect has a nearly straight outline and flat surface.
The document contains radiographic images and interpretations of various radiolucent and radiopaque lesions in the jaw bones. Common findings included well-defined unilocular radiolucent lesions related to tooth roots with differential diagnoses of radicular cysts, granulomas, and odontogenic keratocysts. Other findings were ill-defined radiolucencies suggestive of malignancies, fractures, and cysts associated with impacted teeth. The document provides radiologists' interpretations of dental radiographs to identify normal and pathological findings in the oral cavity.
- The document describes the anatomical features of maxillary molars 6, 7, and 8 through diagrams, text descriptions, and comparisons of features between the different molars.
- Molar 6 has five surfaces, three roots, and distinctive features like cusp of Carabelli and four cusps connected by triangular ridges.
- Molar 7 is smaller than 6, has three cusps, no cusp of Carabelli, and roots that are closer together.
- Molar 8 usually has one large lingual cusp, fused roots, and numerous supplemental grooves on its occlusal surface.
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 discusses various conditions that can affect the tooth pulp and surrounding structures. It describes the normal anatomy of the pulp and defines different types of pulpitis. It then outlines several pathological conditions such as pulp necrosis, pulp polyps, periapical abscess, granuloma, and cysts. For each condition, it provides details on clinical features and radiographic appearances seen on dental imaging.
This document discusses the management of low angle cases (skeletal deep bites). It covers the etiology, which can include hereditary factors and horizontal growth patterns. Clinical features include a short square face, upper teeth hidden behind the lips, and decreased interlabial distance. Diagnostic features include decreased facial angles and a horizontal growth pattern seen on cephalograms. Management options discussed include removable appliances, growth modification, magnets, fixed appliances, implants, lingual appliances, Invisalign, and surgery. Stability and retention are also addressed.
morphology of mandibular 1st,2nd premolar teethAkram bhuiyan
This document describes the anatomical features of the mandibular first and second premolars. For the first premolar, it notes the presence of a large buccal cusp and smaller lingual cusp, as well as developmental grooves. The root has one root with a mesial groove. For the second premolar, it describes two common crown types - a 3-cusp and 2-cusp variation. The 3-cusp type has deep grooves forming a Y-shape and multiple fossae, while the 2-cusp type has a central groove. The root is larger and longer than the first premolar.
The mandibular central incisor is the narrowest tooth in the dentition. It has sharp mesioincisal and distoincisal angles and a shallow lingual fossa. The root is typically single and straight, tapering to a relatively sharp apex. The crown is wider labiolingually than mesiodistally. It erupts between ages 7-8 and completes root development by age 10.
This document summarizes genetic causes of hearing loss, including syndromic and non-syndromic forms. It discusses epidemiology, methods of study, specific syndromes (e.g. Alport, Usher, Waardenburg), non-syndromic forms, genes involved, and approaches to evaluation and management.
This document summarizes sensorineural hearing loss (SNHL) in children. It discusses the etiology, epidemiology, and causes of SNHL. For congenital SNHL, it describes genetic causes like autosomal dominant and recessive mutations, as well as non-genetic causes like viral infections and trauma during birth. Acquired SNHL is commonly caused by bacterial meningitis in young children. Ototoxic drugs are another significant cause of SNHL and the document lists several classes of drugs that can damage the inner ear. Imaging plays an important role in evaluating childhood SNHL to identify anomalies and guide treatment.
The COL11A2 gene codes for protein XI collagen which plays an important role in the structure and function of the inner ear. There are two common mutations in this gene that can cause congenital hearing loss - the replacement of arginine with cysteine at position 549 or glycine with glutamic acid at position 232. While there is no complete treatment, hearing aids or cochlear implants along with early oral communication treatment can help people with this condition lead normal lives. Current research focuses on gene therapy and stem cell regeneration of inner ear cells.
This document summarizes information about congenital hearing loss caused by mutations in the COL11A2 gene. The COL11A2 gene codes for a protein called XI Collagen that plays an important role in the structure and function of the inner ear. There are two common mutations - one replacing arginine with cysteine and the other replacing glycine with glutamic acid - that can damage the inner ear. While there is no cure, treatment options like hearing aids and cochlear implants can improve hearing. The COL11A2 gene mutation is dominantly inherited. With early treatment, people with this form of congenital hearing loss can live normal lives. Current research focuses on gene therapy and stem cell regeneration of inner ear cells
Hereditary hearing loss can be caused by genetic mutations and can be passed down from parents to children. The document discusses several types of genetic hearing loss including syndromic hearing loss which is accompanied by other health issues, and non-syndromic hearing loss which only involves hearing. Specific genetic disorders that can cause hearing loss, such as Waardenburg Syndrome and Stickler Syndrome, are explained. Mutations in the GJB2 and POU3F4 genes are highlighted as common causes of non-syndromic genetic hearing loss. The document provides an overview of genetic factors that can contribute to hearing impairment from birth or that develop later in life.
This document discusses deafness in children, including different types, causes, risk factors, screening, and management. It outlines types like conductive, sensory, and neural deafness. Causes include genetic disorders, infections, medications, and complications of prematurity. Early screening before age 2 is important for excellent outcomes, while detection after 5 leads to poorer results. Treatment involves identifying and addressing underlying causes, use of hearing aids, and in severe cases, cochlear implants.
Craniofacial syndromes /certified fixed orthodontic courses by Indian dental ...Indian dental academy
The document discusses various craniofacial syndromes and anomalies. It begins by introducing craniofacial anomalies and their significance. It then defines key terms like syndrome, anomaly, sequence, and association. It describes the four types of congenital anomalies: malformation, disruption, deformation, and dysplasia. It also discusses classifications of craniofacial syndromes and some specific syndromes associated with midfacial deficiencies like Apert syndrome, Crouzon syndrome, and Pfeiffer syndrome. It provides details on the etiology, clinical features, dental anomalies, and treatment of these conditions.
This document provides an overview of the anatomy and physiology of the human eye. It describes the major internal and external structures of the eye, including the cornea, iris, lens, retina, rods and cones, and optic nerve. It explains how light enters the eye and is focused on the retina, and how visual signals are transmitted from the retina to the brain via the optic nerve. The document is intended to teach postgraduate students about the special sense of vision.
This document provides an overview of class III malocclusion. It begins with definitions of class III based on Angle classification, incisor classification, and canine classification. It then discusses the incidence of class III malocclusion, types, etiology, clinical features, diagnosis, and treatment options. For clinical features, it describes skeletal, soft tissue, dental, and cephalometric features as well as displacement and path of closure. It outlines treatment options such as growth modification, orthodontic camouflage, and orthognathic surgery. The document concludes with a declaration by the author.
This document provides an overview of the anatomy and physiology of the visual system for postgraduate students. It describes the main parts of the eye including the retina, rods and cones, lens, iris, and other structures. It explains how light is focused on the retina through refraction and the process of accommodation. Common vision conditions like myopia, hyperopia and presbyopia are also discussed. The document concludes with descriptions of the photoreceptor mechanism and how light triggers electrical responses in rods and cones that are transmitted to the brain.
This document discusses diagnostic records for orthodontic treatment planning. It emphasizes the importance of thorough evaluation of dental casts, facial and intraoral photographs, and radiographs to identify all dental, skeletal, and soft tissue problems. Cephalometric analysis and 3D imaging such as CBCT are described as useful tools to further characterize dentofacial proportions and anomalies. The goal of comprehensive diagnostic records is to complete the diagnostic phase of treatment planning by identifying all significant orthodontic problems to inform development of an appropriate treatment plan.
1. Palate orthopedic expansion is used to treat cases with a contracted maxilla under age 15-16 where the transverse discrepancy is over 5mm.
2. The procedure involves disjoining the palatal suture to allow expansion and widening of the maxilla, which improves nasal ventilation.
3. Effects are seen in the horizontal, frontal, and sagittal planes, with fanning of the midpalatal suture and downward divergence of the jaws.
The document summarizes key aspects of a seminar on rhinoplasty surgery:
1. It provides background on the history and development of rhinoplasty techniques dating back thousands of years.
2. Key anatomical structures of the nose are defined including the nasal vaults, skin, muscles, blood supply and important surgical considerations.
3. Surgical approaches, grafts, and post-operative care are briefly outlined.
The document summarizes key aspects of a seminar on rhinoplasty surgery:
1. It provides background on the history and development of rhinoplasty techniques dating back thousands of years, outlines important anatomical structures and terminology, and reviews the surgical anatomy of the nose including skin, cartilage, muscles and blood supply.
2. Key anatomical structures discussed include the nasal vaults, nasal tip tripod system, and external and internal nasal valves that are important to consider during rhinoplasty.
3. Preserving muscles and nerves is important to avoid postoperative rigidity or numbness, and understanding variations in skin thickness can influence surgical planning and expected outcomes.
This document discusses orbital hypertelorism, which refers to orbits that are widely spaced. It can occur in craniofacial dysplasias, clefts, and craniosynostosis syndromes. The main surgical techniques for correction are box osteotomy and facial bipartition, which move the orbits medially using intra-cranial and extra-cranial approaches. Box osteotomy moves just the orbits while facial bipartition also rotates the hemifaces. Care must be taken to secure the medial canthi and use grafts to prevent complications and achieve stability. The goal of surgery is improved cosmesis, and risks are minimized with proper technique.
The document provides instructions for using a compound microscope. It describes the main parts of the microscope including the base, arm, body tube, stage, objective lenses, and eye pieces. It explains how to focus the microscope by using the coarse and fine adjustment knobs. The document emphasizes handling the microscope carefully and cleaning the lenses with lens paper. It provides guidelines for maintenance of the microscope.
- The most important part of orthodontic treatment is the patient assessment, which includes both extra-oral and intra-oral examinations.
- The extra-oral examination is conducted first and assesses the skeletal pattern, soft tissue form, and presence of habits to determine treatment options.
- Key aspects of the extra-oral examination include evaluating the skeletal pattern in three dimensions, assessing the soft tissue profile, and examining the vertical and transverse dimensions.
Week 4 DiscussionDifferential Diagnosis for Skin ConditionsPro.docxdannies7qbuggie
Week 4 Discussion
Differential Diagnosis for Skin Conditions
Properly identifying the cause and type of a patient’s skin condition involves a process of elimination known as differential diagnosis. Using this process, a health professional can take a given set of physical abnormalities, vital signs, health assessment findings, and patient descriptions of symptoms, and incrementally narrow them down until one diagnosis is determined as the most likely cause.
In this Discussion, you will examine several visual representations of various skin conditions, describe your observations, and use the techniques of differential diagnosis to determine the most likely condition.
Note:
Your Discussion post should be in the SOAP (Subjective, Objective, Assessment, and Plan) note format,
rather than the traditional narrative style Discussion posting format. Refer to Chapter 2 of the Sullivan text and the Comprehensive SOAP Template in this week's Learning Resources for guidance.
Remember that not all comprehensive SOAP data are included in every patient case.
To prepare:
·
Review the Skin Conditions document provided in this week’s Learning Resources, and select two conditions to closely examine for this Discussion.
·
Consider the abnormal physical characteristics you observe in the graphics you selected. How would you describe the characteristics using clinical terminologies?
·
Explore different conditions that could be the cause of the skin abnormalities in the graphics you selected.
·
Consider which of the conditions is most likely to be the correct diagnosis, and why.
Post
a 1 page paper APA format
Your Discussion post should be in the SOAP (Subjective, Objective, Assessment, and Plan) note format,
1.
a description of the
two
graphics you selected (identify each graphic by number).
(see sample skin conditions attached)
2.
Use clinical terminologies to explain the physical characteristics featured in each graphic.
3.
Formulate a differential diagnosis of
three to five
possible conditions for each.
4.
Determine which is most likely to be the correct diagnosis, and explain your reasoning.
READINGS
Ball, J. W., Dains, J. E., Flynn, J. A., Solomon, B. S., & Stewart, R. W. (2015).
Seidel's guide to physical examination
(8th ed.). St. Louis, MO: Elsevier Mosby.
o
Chapter 8, “Skin, Hair, and Nails” (pp. 114-165)
This chapter reviews the basic anatomy and physiology of skin, hair, and nails. The chapter also describes guidelines for proper skin, hair, and nails assessments.
·
Dains, J. E., Baumann, L. C., & Scheibel, P. (2016).
Advanced health assessment and clinical diagnosis in primary care
(5th ed.). St. Louis, MO: Elsevier Mosby.
o
Chapter 28, “Rashes and Skin Lesions” (pp. 325-343)
This chapter explains the steps in an initial examination of someone with dermatological problems, including the type of information that needs to be gathered and assessed.
Note:
Download and use the Adult Examination Checklist and the Physical Exam.
Orthodontic diagnosis deals with recognition of the various characteristics of the malocclusion. It involves collection of pertinent data in a systemic manner to help in the identifying the nature and cause of the problem.
Principles of Radiographic InterpretationsHadi Munib
This document provides guidance on analyzing intraosseous lesions seen on dental radiographs. It discusses examining the periphery and shape of lesions, analyzing internal structures, and effects on surrounding areas. A systematic approach is recommended, including localizing the lesion, assessing boundaries, structure, and impacts. Specific features that may indicate certain conditions are outlined, such as septa indicating cysts versus tumors. The document emphasizes the importance of thoroughly examining radiographs to form a radiographic interpretation.
The document summarizes key aspects of musculoskeletal development in humans:
- The musculoskeletal system develops from mesoderm, with bones arising from paraxial mesoderm (somites) and lateral plate mesoderm.
- Somites form sequentially through somitogenesis and give rise to vertebrae, ribs, skeletal muscle and tendons.
- Specification of axial skeleton identity relies on Hox gene expression in somites.
- Muscle development occurs through myogenesis from dermomyotome of somites.
This document defines standard terminology for describing the morphology of the hands and feet. It introduces an international effort to standardize terms used in clinical descriptions of the human phenotype. The document defines over 100 terms related to the anatomy of the hands and feet, organized alphabetically into sections on general descriptors, creases, and nails. For each term, a definition and comments are provided to explain clinical significance and replace outdated terminology. The goal is to facilitate more precise communication about morphological findings among clinicians and researchers.
Here is a draft reflection on your anatomy course:
When I first started anatomy, I was overwhelmed by the vast amount of information we had to learn. Memorizing the names and structures of all the bones, muscles, nerves, and organs seemed impossible. I struggled to keep everything straight in my mind.
I found the cadaver dissections particularly challenging. It was difficult to translate what I was seeing in the lab to the diagrams and images in my textbooks. I had trouble visualizing structures in 3D. I also felt squeamish at first being around human remains.
What went wrong was that I tried to cram and memorize everything at once without taking the time to truly understand each system. I didn't connect the
The document discusses maxillo-mandibular relation and methods for recording vertical dimension. It defines key terms like vertical relation, vertical dimension, rest vertical dimension, and occlusal vertical dimension. It describes various methods for recording the rest vertical dimension including facial measurements, tactile sense, phonetics, and anatomical landmarks. Methods for recording the occlusal vertical dimension without pre-extraction records include the Boos method, tactile sense, swallowing threshold, and phonetics. Consequences of increased or decreased vertical dimension are also outlined.
The six keys to normal occlusion are:
1. Proper molar relationship with the upper first molar contacting the lower second molar.
2. Consistent crown angulation with the gingival portion of each crown more distal than the incisal portion.
3. Specific crown inclinations for the anterior and posterior teeth that contribute to proper overbite and occlusion.
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.
Computer in pharmaceutical research and development-Mpharm(Pharmaceutics)MuskanShingari
Statistics- Statistics is the science of collecting, organizing, presenting, analyzing and interpreting numerical data to assist in making more effective decisions.
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Breast cancer: Post menopausal endocrine therapyDr. Sumit KUMAR
Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
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1. RESEARCH ARTICLE
Elements of Morphology: Standard Terminology for the
Periorbital Region
Bryan D. Hall,1
* John M. Graham Jr.,2
Suzanne B. Cassidy,3
and John M. Opitz4
1
Department of Pediatrics, University of Kentucky, Lexington, Kentucky
2
Medical Genetics Institute, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California
3
Division of Medical Genetics, Department of Pediatrics, University of California–San Francisco, San Francisco, California
4
Departments of Pediatrics (Division of Medical Genetics), Pathology, Human Genetics, Obstetrics and Gynecology,
University of Utah Health Sciences Center, Salt Lake City, Utah
Received 18 September 2008; Accepted 15 October 2008
An international group of clinicians working in the field of
dysmorphology has initiated the standardization of terms used
to describe human morphology. The goals are to standardize
these terms and reach consensus regarding their definitions. In
this way, we will increase the utility of descriptions of the human
phenotype and facilitate reliable comparisons of findings among
patients. Discussions with other workers in dysmorphology and
related fields, such as developmental biology and molecular
genetics, will become more precise. Here we introduce the
anatomy of the periorbital area and define and illustrate the
terms that describe the major characteristics of the periorbital
area. Ó 2009 Wiley-Liss, Inc.
Key words: terminology; definitions; periorbital structures; eye-
brows; eyelashes; eyelids; palpebrae; telecanthus; lacrimal glands
INTRODUCTION
General
This article is part of a series of six articles defining the morphology
of regions of the human body [Allanson et al., in press-b; Biesecker
et al., in press; Carey et al., in press; Hennekam et al., in press;
Hunter et al., in press]. The series is accompanied by an introduc-
tory article describing general aspects of this project [Allanson etal.,
in press-a]. The reader is encouraged to consult the introduction
when using the definitions.
Anatomy
The general anatomy of the non-globeperiorbitalregionisdepicted
in Figure 1. The definitions for the terms utilized in describing the
features within this region are listed alphabetically. The anatomy of
the various structures is described in more detail below.
Brow: The soft tissue at the junction of the frontalis and
orbicularis oculi muscles, overlying the bony supraorbital ridge.
Eyebrow: The arch of hair on the brow (Fig. 2) [Goss, 1959]. The
eyebrows usually extend further laterally than medially, in relation
to the eye, and are wider and thicker medially. Based on observed
localized abnormalities of the eyebrow, it is useful to divide the
eyebrow into three parts: medial, middle (central), and lateral.
The hairs of the medial part are oriented laterally, while those of the
middle (central) part are oriented superolaterally. The transition
between the middle and lateral parts is less frequently visible. Some
syndromes have unique patterns of aberrations in one or more of
these three areas. The eyebrow is sometimes referred to as the
supercilium.
Eye spacing: There is wide variation in interorbital distance
and in the placement of the canthi [Cohen et al., 1995]. A number
of terms in this article address the nomenclature of these
variations. Several of the terms are commonly confused
(especially telecanthus and hypertelorism). Some of the variations
are illustrated in Figure 3.
Eyelashes: Hairs that emanate from the margins of the eyelids
[Goss, 1959].
Eyelid (syn. Blepharon, palpebra {plural: palpebrae}): A fold of
skin and its subcutaneous components that covers the anterior
globe. The upper lid is bounded by the soft tissue overlying
the inferior border of the bony supraorbital ridge and inferiorly
by the lid margin. The lower lid is bounded by the soft tissue
overlying the infraorbital rim and superiorly by the lid margin. A
Ó 2009 Wiley-Liss, Inc. 29
Note: Individuals are free to copy, distribute and display this work and to make derivative works for noncommercial purposes so long as the work is given proper attribution per the Creative Commons License 3.0. Any derivative works so
made should contain the following legend ‘‘This is a derivative work of [full cite], made pursuant to Creative Commons License 3.0. It has not been reviewed for accuracy or approved by the copyright owner. The copyright owner disclaims all warranties.’’
*Correspondence to:
Bryan D. Hall, Department of Pediatrics, Division of Clinical/Biochemical
Genetics and Dysmorphology, Kentucky Clinic, University of Kentucky,
Lexington, KY 40536-0284. E-mail: bdelhall@insightbb.com
Published online 5 January 2009 in Wiley InterScience
(www.interscience.wiley.com)
DOI 10.1002/ajmg.a.32597
How to Cite this Article:
Hall BD, Graham JM Jr., Cassidy SB, Opitz
JM. 2009. Elements of morphology: Standard
Terminology for the periorbital region.
Am J Med Genet Part A 149A:29–39.
2. crescent-shaped crease on the upper eyelid represents the location
of attachment of the levator palpebrae muscle to the orbicularis
oculi muscle [Goss, 1959].
Lacrimal punctum {plural: puncta}: This structure represents
the external aperture of the tear duct system. It can be absent,
malpositioned, or obstructed [Ogawa and Gonnering, 1991], and
several terms below address these findings.
Palpebral fissure: When the eye is open the palpebral fissure is a
scaphoid space or outline formed by eyelid margins. The palpebral
fissure extends from the lateral canthus (outer canthus) to the
medial canthus (inner canthus). Many factors (e.g., size, slant,
eyelid architecture, ptosis) can contribute to configuration of the
palpebral fissures [Hall et al., 2007].
Notethatthepluralityofthetermsisvariable.Thedefaultchosen
is to specify the singular form of the term unless the term relates to a
pairofstructuresandonlymakessenseinthepluralform(e.g.,Eyes,
closely spaced) or refers to a structure with many elements
(e.g., Eyelashes, sparse). The plurality of the terms was ignored
when they were alphabetized and the terms were grouped together
(e.g., ‘‘Eye. . .’’ and ‘‘Eyes. . .’’ are grouped together, and not inter-
rupted by ‘‘Eyelashes. . .’’).
DEFINITIONS
Ablepharon
Definition: Absent eyelids (Fig. 4). objective
Comments: In Ablepharon the globe is continuously exposed
[Stevens and Sargent, 2002]. It is arguable whether true aplasia of
FIG. 1. Periorbital anatomy and terminology. A: A periorbital
image with a number of landmarks indicated. B: A
schematic diagram showing only the major periorbital
features that are commonly measured (courtesy R.
Hennekam, M.D.).
FIG. 2. Typical eyebrow with mild arch, widening medially,
and gradual thinning laterally.
FIG. 3. Visual comparison of normal eye spacing and medial
(inner) canthal position with Closely spaced eyes, Widely
spaced eyes and Telecanthus (courtesy of R. Hennekam,
M.D.). These images were artificially manipulated to
simulate clinically observed variations.
FIG. 4. Ablepharon, or absent eyelids, in a patient who also
has Telecanthus and Downslanted palpebral fissures
(courtesy of C. Stevens, M.D.).
30 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
3. the eyelids exists, or whether this represents severe hypoplasia.
Nevertheless, as it is difficult or impossible to make this distinction
on clinical grounds, the term was felt to be useful.
Synonym: Absent eyelids
Ankyloblepharon
Definition: Partial fusion of the upper and lower eyelid margins by
single or multiple bands of tissue (Fig. 5). objective
Comment: This term derives from Weiss et al. [1992]. A
minimally expressed form, especially when located fully laterally,
may be more difficultto ascertain and would be a subjective feature.
A band may break and leave no evidence of its presence. Note that
this term is distinct from Cryptophthalmos.
Synonym: Eyelid synechiae; Ankyloblepharon filiforme
adnatum
Ankyloblepharon filiforme adnatum: See Ankyloblepharon
Antimongoloid slant: See Palpebral fissures, downslanted
Atrichia: See Eyelashes, sparse
Blepharochalasis
Definition: Lax, wrinkled, and baggy eyelid skin (Fig. 6). subjective
Comment: This finding is usually more apparent in the upper
eyelid. The eyelid tissue thickness is usually also reduced. The
featureisfrequentinolderpersons[HeldandSchneiderman,1990].
Blepharophimosis
Definition: A fixed reduction in the vertical distance between the
upper and lower eyelids with short palpebral fissures (Fig. 7).
subjective
Comment:ThistermisderivedfromCunniffetal.[1998].Itisan
acknowledged bundled term. When palpebral fissures are severely
shortened, they cannot be widely separated, actively or passively.
Ptosis is the term to be used when the reduction in eyelid opening is
not fixed but can be increased actively or passively. Blepharophi-
mosis is often associated with Epicanthus inversus.
Blepharoptosis: See Ptosis
Ciliary trichomegaly: See Eyebrows, long
Cryptophthalmos
Definition: Absent palpebral fissures, with skin passing continu-
ously from the forehead or eyebrow onto the cheek (Fig. 8).
subjective
Comments: This term is based on Saal et al. [1992]. This is an
acknowledged bundled term, though the separate coding of the
components (palpebral fissure absence; presence of eyelashes) was
deemed impractical. This is typically associated with a rudimentary
or small globe. Frequently, a tuft of hair accompanies the aberrant
skin
Dystopia canthorum: See Telecanthus
Ectropion
Definition: An outward turning (eversion) or rotation of the eyelid
margin (Fig. 9). subjective
FIG. 5. Ankyloblepharon, or partial fusion of the eyelids, in a
patient who also has Short palpebral fissures.
FIG. 6. Blepharochalasis, wrinkled, thin eyelids, which in
this patient is limited to the upper lids.
FIG. 7. Blepharophimosis, tight lids with short palpebral
fissures giving a pseudoptosis. This patient also has
Epicanthus inversus, which is often associated, but not
required for the finding.
FIG. 8. Cryptophthalmos secondary to skin covering the lids
and palpebral fissures (courtesy of John M. Graham,
M.D.).
HALL ET AL. 31
4. Comment: This term is derived from Cheng and Biglan [2002].
This finding is frequently associated with overexposure of the
palpebral and scleral conjunctiva and cornea. It usually involves
the lower eyelid. Modifiers such as ‘‘lower’’ and ‘‘lateral’’ may be
applied as appropriate.
Entropion
Definition: An inward turning (inversion) of the eyelid margin
(Fig. 10). subjective
Comment: The inward turned eyelid margin increases the po-
tential for mechanical irritation of the eye by eyelashes [Cheng and
Biglan, 2002]. This should be distinguished from Epiblepharon.
Epiblepharon
Definition:Redundanteyelidskinpressingtheeyelashesagainstthe
cornea and/or conjunctiva (Fig. 11). subjective
Comment: This term is based on Lemke and Stasior [1981]. This
should be distinguished from Entropion (see above).
Epicanthal fold: See Epicanthus
Epicanthus
Definition: A fold of skin starting above the medial aspect of the
upper eyelid and arching downward to cover, pass in front of and
lateral to the medial canthus (Fig. 12A). subjective
Comment: In extreme cases, the skin fold can start as high as the
eyebrow [Hall et al., 2007]. This is called epicanthus superciliaris
(Fig. 12B).
Synonym: Epicanthal fold; Epicanthus palpebralis
Epicanthus Inversus
Definition: A fold of skin starting at or just below the medial aspect
of the lower lid and arching upward to cover, extend in front of and
lateral to the medial canthus (Fig. 12C). subjective
Comment: For additional information on this finding, see [Oley
and Baraitser, 1988].
Eyes, Closely Spaced
Definition: Interpupillary distance more than 2 SD below the mean
(Fig. 13). objective OR
Interpupillary distance below the 3rd centile. objective OR
The interpupillary distance appears to be decreased. subjective
Comment: The finding is measured according to Hall et al.
[2007]. Note that the data from Hall et al. [2007] show SD for
newborns and centiles for older patients. In the latter data, there is a
continuingincreasein thismeasurementbetween 14and15years of
age, so in the objective finding cannot be made using these norms in
persons above 15 years of age. See Figure 3 for a gestalt of normal
and abnormal eye spacing.
Synonym: Hypotelorism
FIG. 9. Ectropion of the lower lid, or outward turned
(everted) lower eyelid margins. See also Figure 34.
FIG. 10. Entropion, or turned-in lower eyelids. This patient
has congenital lymphedema, but this finding is not
required for Entropion (Note that the illustration in Fig. 41
Upper eyelid fullness, is the maternal grandmother of the
patient in this figure). The patient also has Telecanthus
and Widely spaced eyes.
FIG. 11. Epiblepharon in a young boy with folded-down
upper eyelid skin, which is overlapping the palpebral
aperture. He also has Downslanted palpebral fissures.
FIG. 12. A: Epicanthus, which comprises epicanthal folds
coming from skin above the lid across and in front of
medial canthi. B: Epicanthus superciliaris, which
comprises more extensive epicanthal folds with their
origins in the eyebrow. C: Epicanthus inversus, which is
the reverse of epicanthal folds with its origin at or below
the lower eyelid margin. See also Figure 7.
32 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
5. Eye, Deeply Set
Definition: An eye that is more deeply recessed into the plane of the
face than is typical (Fig. 14). subjective
Comments: This finding should be distinguished from a promi-
nent supraorbital ridge or inferior orbital margin. In Deeply set
eyes, the globe is recessed in comparison to the overall prominence
of the face. There is no known objective measurement, and diag-
nosing this feature depends heavily on the experience of the
observer.
Synonym: Sunken eyes
Eyes, Widely Spaced
Definition: Interpupillary distance more than 2 SD above the mean
(newborns 27–41 weeks gestational age Fig. 15). objective OR
Interpupillarydistanceabovethe97thcentile(0–15yearsofage).
objective OR
The interpupillary distance appears to be increased. subjective
Comment: The finding is measured according to Hall et al.
[2007]. Note that the data from Hall et al. [2007] show continuing
increase in this measurement between 14 and 15 years of age, so this
finding should only be made according to the subjective definition
in persons above 15 years of age. It is important to distinguish
between truly increased interpupillary distance and the apparently
increased spacing that is caused by Telecanthus (see that entry for
additional discussion). See Figure 3 for an illustration of variations
of eye spacing.
Synonym: Hypertelorism
Eyebrow, Broad
Definition: Regional increase in width of the eyebrow (Fig. 16).
subjective
Comment:broadeningorflaringcanbemedialorlateral,andthe
term may be modified by appending one of these words to the term
(see Fig. 16). Flaring is used to describe a widening with a change in
direction of the hairs constituting the eyebrow, but these terms are
considered synonymous here.
Synonym: Flared eyebrow
Eyebrow, bushy: See Eyebrows, thick
Eyebrow, Highly Arched
Definition: Increased height of the central portion of the eyebrow,
forming a crescent, semicircular, or inverted U shape (Fig. 17).
subjective
Comment: Most eyebrows have some arch with down turning
medially and laterally. We know of no normative data for eyebrow
arching. Identifying this feature is dependent on the experience of
the observer. It may help to closely compare the shape/arching with
that of siblings and parents.
Eyebrow, hirsutism of: See Eyebrow, thick
Eyebrow, Horizontal
Definition: An eyebrow that extends straight across the brow,
without curve (Fig. 18). subjective
FIG. 13. Closely spaced eyes, in a child. See also Figure 36.
FIG. 14. Deeply set eyes in a child.
FIG. 15. A boy with Widely spaced eyes, subjective but
without Telecanthus, demonstrating the independence of
these two features. See also Figures 10, 30, 33, and 40B.
FIG. 16. Broad medial eyebrows in a boy. In this patient, the
modifier of medial is inserted into the primary term.
FIG. 17. Highly arched eyebrows in a young man. In this
patient, the eyebrows are high-set and thin and they ride
above the supraorbital rim, although these features are
not required for the term to be used.
HALL ET AL. 33
6. Comment: Evaluation should be performed with the face at rest.
Horizontal eyebrows are an uncommon finding.
Synonym: Straight eyebrows
Eyebrow, hypertrichosis of: See Eyebrow, thick
Eyebrow, Laterally Extended
Definition: An eyebrow that extends laterally beyond the orbital
rim rather than turning gently downward at that location (Fig. 19).
subjective
Comment: The degree of extension beyond the orbital rim
considered abnormal has not been established. This feature is also
uncommon.
Eyebrow, Sparse
Definition: Decreased density/number and/or decreased diameter
of eyebrow hairs (Fig. 20). subjective
Comment: Sparseness can be regional (medial, central, lateral)
or total. These modifiers should be incorporated into the term,
when appropriate.
Synonym: Hypotrichosis of the eyebrow.
Eyebrow, straight: See Eyebrow, horizontal
Eyebrow, Thick
Definition: Increased density/number and/or increased diameter
of eyebrow hairs (Fig. 21). subjective
Comment: Thickness can be regional (medial, middle (central),
lateral) or total. These modifiers should be incorporated into the
term, when appropriate.
Synonym: Hypertrichosis of the eyebrow; Bushy eyebrow
Eyelashes, Absent
Definition: No eyelashes are present (Fig. 22). objective
Comment: This term is based on Ahmad et al. [1998]. Often this
finding is congenital and associated with alopecia universalis, but
this should be coded separately.
Synonym: Atrichia of eyelashes
Eyelashes, Long
Definition: Mid upper eyelash length >10 mm (Fig. 23). objective
OR
FIG. 18. Horizontal eyebrows, which extend straight across
from medial to lateral in this girl. See also Figure 19.
FIG. 19. Laterally extended eyebrows in a teenage boy
whoseeyebrows extendfarbeyond thelateralorbitalwall.
Healsohas Horizontal eyebrows, but thisshould becoded
separately.
FIG. 20. Sparse eyebrows in a girl with other features of
ectodermal dysplasia. See also Figure 25.
FIG. 21. Thick eyebrows, in a patient who also has
Prominent eyelashes as well. This pre-teenage boy also
shaves his facial hair.
FIG. 22. Absent eyelashes or atrichia or in an adult female.
FIG. 23. Long eyelashes, in a boy. Note that, in addition to
theirlength,theeyelashesareunusuallyangled,although
that feature is not required for the finding of Long
eyelashes. See also Figure 24.
34 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
7. Increased length of the eyelashes. subjective
Comment: Measurement should be done on the longest lashes,
which are usually at the center of the lid. Normal values are
7.99 Æ 1.05 mm in boys and 7.76 Æ 1.03 mm in girls [Pucci et al.,
2005].
Synonym: Ciliary trichomegaly.
Eyelashes, Prominent
Definition: Eyelashes that draw the attention of the viewer due to
increased density and/or length and/or curl without meeting the
criteria of trichomegaly (Fig. 24). subjective
Comment: This is admittedly a bundled term, but it may be
useful in clinical practice.
Eyelashes, Sparse
Definition: Decreased density/number of eyelashes (Fig. 25).
subjective
Comment: Sometimes Sparse eyelashes are abnormally formed
eyelashes. The sparseness may be limited to one portion of the
eyelid. We know of no normative data for Sparse eyelashes.
Synonym: Hypotrichosis of eyelashes
Eyelid, Cleft
Definition: A short discontinuity of the margin of the lower or
upper eyelid (Fig. 26). subjective
Comment: The lateral segment of the lower eyelid is most
commonly involved. As the milder forms of this finding are clearly
subjective and no boundary of subjective and objective is defined,
the term is considered subjective. The term ‘‘eyelid coloboma’’ has
been replaced because the word ‘‘coloboma’’ should be used only
for defects at the site of fusion of embryologic structures, which is
notthecasehere.Modifierstodesignatethelocationofthecleftmay
be added, such as ‘‘lower’’ and ‘‘lateral.’’
Synonym: Notched eyelid
Replaces: Eyelid coloboma
Eyelid, coloboma of: See Eyelid, cleft
Eyelid, notched: See Eyelid, cleft
Hypertelorism: See Eyes, widely spaced
Hypotelorism: See Eyes, closely spaced
Hypotrichosis: See Eyebrows, sparse or Eyelashes, sparse
Infra-Orbital Crease
Definition: Skin crease extending from below the inner canthus
laterallyalongthemalarprocessofthemaxillaandzygoma(Fig.27).
subjective
Comment: This feature is often found in the presence of
hypoplasia of the malar process of the maxilla or zygoma, but this
should be described separately. See Infra-orbital fold for a related
term.
Infra-Orbital Fold
Definition: Elevated ridge(s) of skin starting well below the medial
aspect of the lower lid that curves gradually upward toward and/or
across the nasal bridge (Fig. 28). subjective
Comments: This excludes Epicanthus inversus. See Infra-
orbital crease for a related term.
Lacrimal Punctum, Absence
Definition: No identifiable superior and/or inferior lacrimal punc-
tum (Fig. 29). objective
Comments: The openings of the tear ducts are normally located
at the medial margin of each eyelid. The opening on the lowereyelid
FIG. 24. Prominent eyelashes in a boy. He also has the
finding of Long eyelashes, but that should be coded
separately. See also Figure 21.
FIG. 25. Sparse eyelashes in a girl who also has some
thinning of the lashes as well as Sparse eyebrows and
sparse scalp hair. See also Figure 26.
FIG. 26. Cleft lower, outer eyelid in a child. Note that the
modifiers of ‘‘lower’’ and ‘‘outer’’ are added to the term.
Note that she also has Sparse lower eyelashes.
FIG. 27. Infra-orbital creases in a girl who also has
Infraorbital folds, flat malar bones, and laterally
protruding ears. See also Figure 33.
HALL ET AL. 35
8. border is more visible than the opening on the upper eyelid border.
Absence of the lacrimal punctum is uncommon [Ferreira et al.,
2000]andalthoughitistypicallypresumedtobecausedbyagenesis,
we avoid causal mechanisms in this terminology. There was some
disagreement as to whether Nasolacrimal duct obstruction should
be included in this terminology. As that assessment is primarily
functional and not anatomic, it was removed.
Replaces: Agenesis of the lacrimal punctum
Lacrimal Punctum, Ectopic
Definition: Positioning of a lacrimal punctum other than at the
medial margins of the eyelid (Fig. 30). subjective
Comment:Theopeningsofthetearductsarenormallylocatedat
the medial margin of each eyelid. The opening on the lower eyelid
border is more visible than the opening on the upper eyelid border.
Ectopic positions can include the upper eyelid, nasal bridge, or
inferior to medial aspect of the lower lid.
Lagophthalmos
Definition: Inability to totally close the eyelids while awake, asleep,
or both (Fig. 31). subjective
Comment: It may be an isolated finding or part of a syndrome
[Korula et al., 1995] and can be associated with Ectropion. Lagoph-
thalmos frequently results in chronic conjunctival and/or corneal
irritation.
Mongoloid slant: See Palpebral fissure, upslanted
Palpebral Fissure, Almond-Shaped
Definition: A shape created by an acute downward arching of the
upper eyelid and upward arching of the lower eyelid, toward the
medial canthus, which gives the outline of the palpebral fissures the
configuration of an almond; thus, the maximum distance between
the fissures is offset from, and medial to, the center point (Fig. 32).
subjective
Comments: The almond configuration tends to dissipate with
time as the surrounding tissues (e.g., eyelid, nasal bridge) grow.
Palpebral Fissure, Downslanted
Definition: The palpebral fissure inclination is more than 2 SD
below the mean for age (Fig. 33). objective OR
The inclination of the palpebral fissure is less than typical for age.
subjective
Comments: The slant, or inclination, of the palpebral fissure is
defined as the angle formed by two lines: an imaginary line that
connects the lateral canthus and the medial canthus of each eye, and
an imaginary horizontal line formed by the two medial canthi when
the patient holds their head with the facial midline vertical, the head
in a neutral vertical position (neither flexed nor extended) and the
gazeforward[Farkas, 1994].Palpebralfissure inclination normsare
FIG. 28. Infra-orbital folds associated with upper facial
edema (the latter is not required for the finding to be
made). Note that these folds are oriented toward the
lateral borders of the nasal bridge. See also Figure 27.
FIG. 29. This child has Absence of the lacrimal puncta. Note
that she also has Short palpebral fissures, Downslanted
palpebral fissures, Telecanthus, and Nasolacrimal duct
obstruction with erythematous and swollen lacrimal
ducts below the medial canthi.
FIG. 30. The left eye shows an inferiorly placed medial
canthus and Ectopic lacrimal punctum plus a defect in the
left nostril.
FIG. 31. This teenage girl has Lagophthalmos, which has
caused her to have severe corneal and scleral irritation.
FIG. 32. This shows a typical Almond-shaped palpebral
fissure of the left eye. A comparison with the right eye
illustrates the difference, that being the sharp descent of
the upper medial canthal fold.
36 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
9. specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese
and African-American populations (limited data, pgs 342, and 349,
respectively). Hall et al. [2007] only specifies norms for Caucasians
between 6 and 16 years of age. Note that the mean inclination is
slightly upslanting at all ages [Farkas, 1994; Hall et al., 2007]. Some
features (e.g., Ptosis or Epicanthus) may hinder palpebral fissure
inclination assessment. Malar and/or zygomatic hypoplasia and
Widely spaced eyes may be associated with a downward slant.
Replaces: Antimongoloid slant
Palpebral Fissure, Long
Definition: Distance between the medial and lateral canthi is more
than 2 SD above the mean for age (Fig. 34). objective OR
Apparently increased length of the palpebral fissures. subjective
Comment: Measurement techniques and norms are as specified
in Hall et al. [2007] and Farkas [1994]. The term ‘‘wide palpebral
fissure’’ is discouraged because this term is vague with respect to
which dimension (vertical vs. horizontal) it refers to, coupled with
the popular definition of ‘‘wide-eyed,’’ which refers to palpebral
fissure height.
Replaces: Wide palpebral fissure
Palpebral Fissure, Short
Definition: Distance between the medial and lateral canthi is more
than 2 SD below the mean for age (Fig. 35). objective OR
Apparently reduced length of the palpebral fissures. subjective
Comments:Measurementtechniquesandnormsareasspecified
in Hall et al. [2007] and Farkas [1994]. These sources include more
complete data for Caucasians than for other groups. Decreased
palpebral fissure length may beaccompaniedby adecreased vertical
distance between the upper and lower eyelid, which gives the eyes a
more slit-like appearance and may give the appearance of Ptosis,
but this should be coded separately if it is present. Severe shortening
of the palpebral fissures leads to Blepharophimosis.
Palpebral Fissure, Upslanted
Definition: The palpebral fissure inclination is more than 2 SD
above the mean for age (Fig. 36). objective OR
The inclination of the palpebral fissure is greater than typical for
age. subjective
Comments: The slant, or inclination, of the palpebral fissure is
defined as the angle formed by two lines: an imaginary line that
connects the lateral canthus and the medial canthus of each eye, and
an imaginary horizontal line formed by the two medial canthi when
the patient holds their head with the facial midline vertical, the head
in a neutral vertical position (neither flexed nor extended) and the
gazeforward[Farkas, 1994].Palpebralfissureinclination normsare
specified in Farkas [1994] for Caucasians (pg. 283) and for Chinese
and African-American populations (limited data, pgs 342, and 349,
respectively). Hall et al. [2007] only specifies norms for Caucasians
between 6 and 16 years of age. Upslanted palpebral fissures may be
associated with microcephaly, but this should be coded separately.
Some features (e.g., Ptosis or Epicanthus) may hinder palpebral
fissure inclination assessment.
Replaces: Mongoloid slant
Palpebral fissure, wide. See: Palpebral fissure, long
Proptosis
Definition: An eye that is protruding anterior to the plane of the
face to a greater extent than is typical (Fig. 37). subjective
FIG. 33. This boy has Downslanted palpebral fissures,
Widely spaced eyes, Proptosis, and Infra-orbital creases.
See also Figures 4, 11, 29, 38, and 39.
FIG. 34. Long palpebral fissures, and Lateral ectropion are
obvious in this boy.
FIG. 35. Young female with mildly to moderately Short
palpebral fissures. Note some mild Ptosis. See also
Figures 5 and 29.
FIG. 36. Upslanted palpebral fissures, in a boy who also has
Closely spaced eyes. See also Figure 41B.
HALL ET AL. 37
10. Comments: This finding should be distinguished from under-
development of the supraorbital ridge or maxilla/zygoma. In
Proptosis, the globe is anteriorly protuberant in comparison to
the overall plane of the face. There is no known objective measure-
ment, and diagnosing this feature depends heavily on the experi-
ence of the observer.
Synonym: Prominent eyes
Ptosis
Definition:Theuppereyelidlidmarginispositioned3mmormore
lowerthanusualandcoversthesuperior portionoftheiris(Fig.38).
objective OR
Theupperlidmargin obscuresatleastpartofthepupil.subjective
Comment: True ptosis usually occurs in the presence of normal
palpebral fissure length. Apparent ptosis is seen in Blepharophi-
mosis and other causes of Short palpebral fissures. Pseudoptosis
occursinthepresenceofseverezygomaticunderdevelopmentwhen
the resulting dramatic downward eye slant pulls the upper eyelid
diagonally across the globe.
Synonym: Blepharoptosis
Synechiae: See Ankyloblepharon
Synophrys
Definition:Meetingofthemedialeyebrowsinthemidline(Fig.39).
subjective
Comment: Cosmetic hair removal or shaving may obscure this
feature. It is controversial whether the medial eyebrows must meet
in the midline to warrant this descriptor, as opposed to eyebrows
that extend markedly toward the midline but do not meet.
Replaces: Unibrow
Telecanthus
Definition: Distance between the inner canthi more than 2 SD
above the mean (Fig. 40). objective OR
Apparently increased distance between the inner canthi.
subjective
Comments: Telecanthus may be present without (Fig. 40A) or
with(Fig.40B)Widelyspacedeyes.Inthelattercase,Widelyspaced
eyes should be coded separately. Inner canthal distance varies
among ethnic groups. Norms are available for American Africans
[Murphy and Laskin, 1990], Chinese [Wu et al., 2000], and
Caucasians [Laestadius et al., 1969; Feingold and Bossert, 1974;
Merlob et al., 1984; Evereklioglu et al., 2001]. In the presence of an
Epicanthal fold, ascertainment of inner canthal distance can be
difficult.
Synonym: Dystopia canthorum
Unibrow: See Synophrys
Upper Eyelid, Fullness of
Definition: Swelling or distention of the upper eyelid (Fig. 41).
subjective
FIG. 37. Bilateral Proptosis. This is a duplicate of Figure 33.
FIG. 38. Ptosis of the right eyelid. Note that the upper lid
margin partially covers the right pupil (compare with
normal left upper eyelid). She also has Downslanted
palpebral fissures. See also Figure 35.
FIG. 39. A patient with Synophrys and Downslanted
palpebral fissures.
FIG. 40. A: Telecanthus with normal interpupillary distance.
Note lack of adequate visualization of the sclera toward
the medial canthi. B: Telecanthus with Widely spaced
eyes. See also Figures 4, 10, 15, and 29.
38 AMERICAN JOURNAL OF MEDICAL GENETICS PART A
11. Comment: The swelling can be due to edema, fat or other
depositions or inflammation. It is controversial whether there
should be a separate term for fullness of the lateral upper eyelid.
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FIG. 41. A: Adult female with Upper eyelid fullness. In this
case, the patient had eyelid edema which gives it fullness
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HALL ET AL. 39