Skeletal dysplasia
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Skeletal dysplasia is caused by defective genes that are either inherited or mutate during fetal development, resulting in abnormal bone growth and modeling. The condition affects bone structure and can range from lethal to mild. Skeletal dysplasias have many subtypes that are classified based on their genetic mechanisms and characteristics visible on prenatal ultrasound or skeletal radiographs, such as shortening of the long bones or abnormal skull shape. Timely prenatal screening and diagnosis is important for determining prognosis and treatment.
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Dwarfism 2
This document discusses achondroplasia, the most common type of dwarfism. It is caused by a mutation in the FGFR3 gene which regulates bone growth. People with achondroplasia have short stature, large head, short arms and legs, bowed legs, and other skeletal abnormalities. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the Fibroblast Growth Factor Receptor 3 gene which affects bone and brain development.
Dwarfism
There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
Human dysmorphism introduction
This document provides an introduction to human dysmorphology, which is the study of abnormal structural differences in the body. It outlines three main steps to approach human dysmorphology: 1) gather patient information; 2) interpret anomalies from developmental anatomy; 3) attempt an overall diagnosis. Step 2 involves determining the earliest defect, whether all anomalies can be explained by a single problem, and classifying the type of morphogenetic problem (e.g. malformation, deformation, disruption, dysplasia). Step 3 aims to arrive at a diagnosis that fits into categories such as a malformation syndrome, sequence, association, or other classification.
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Dysmorphology is the study of abnormal physical features that originate during embryonic development. There are four main pathogenic mechanisms that can cause birth defects: malformations, deformations, disruptions, and dysplasias. Birth defects can be classified as single-system defects, sequences, associations, or syndromes. Syndrome diagnosis is important as it can provide information about recurrence risks, prognosis, potential complications, and avoidance of unnecessary testing. Databases exist to help identify thousands of known multiple congenital anomaly syndromes.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Approach to dysmorphic child
This document discusses an approach to evaluating children with dysmorphic features or congenital anomalies. It begins by outlining common birth defects, their estimated incidences, and potential causes. It then describes the goals and purposes of a dysmorphology evaluation, including establishing diagnoses, determining recurrence risks, and providing management and counseling. The rest of the document discusses specific aspects of evaluating congenital anomalies, such as recognizing normal and abnormal phenotypic variation, determining whether features are isolated or represent a genetic syndrome, and managing patient care.
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
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This document discusses achondroplasia, the most common type of dwarfism. It is caused by a mutation in the FGFR3 gene which regulates bone growth. People with achondroplasia have short stature, large head, short arms and legs, bowed legs, and other skeletal abnormalities. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the Fibroblast Growth Factor Receptor 3 gene which affects bone and brain development.
Dwarfism
There are over 300 causes of dwarfism, with the most common being a spontaneous mutation of the FGFR3 gene. The two main types of skeletal dysplasia that cause dwarfism are short trunk with average limbs, and average trunk with shorter limbs and larger head. People with dwarfism can lead normal, healthy lives through treatments like surgery, nutrition plans, physical therapy and hormone injections depending on the type of dwarfism. The likelihood of having a child with dwarfism depends on factors like the parents' height and whether one or both parents carry a dwarfism gene.
Human dysmorphism introduction
This document provides an introduction to human dysmorphology, which is the study of abnormal structural differences in the body. It outlines three main steps to approach human dysmorphology: 1) gather patient information; 2) interpret anomalies from developmental anatomy; 3) attempt an overall diagnosis. Step 2 involves determining the earliest defect, whether all anomalies can be explained by a single problem, and classifying the type of morphogenetic problem (e.g. malformation, deformation, disruption, dysplasia). Step 3 aims to arrive at a diagnosis that fits into categories such as a malformation syndrome, sequence, association, or other classification.
Dysmorphology
Dysmorphology is the study of abnormal physical features that originate during embryonic development. There are four main pathogenic mechanisms that can cause birth defects: malformations, deformations, disruptions, and dysplasias. Birth defects can be classified as single-system defects, sequences, associations, or syndromes. Syndrome diagnosis is important as it can provide information about recurrence risks, prognosis, potential complications, and avoidance of unnecessary testing. Databases exist to help identify thousands of known multiple congenital anomaly syndromes.
Dwarfism
Dwarfism is a condition characterized by short stature and can be caused by over 200 genetic and medical conditions. There are two main types: disproportionate dwarfism where the trunk is average size but the limbs are shortened, and proportionate dwarfism where all body parts are shortened proportionately. Treatment depends on the type - disproportionate dwarfism may be treated with surgery to lengthen bones while proportionate dwarfism can use hormone treatments like growth hormone to increase height. While dwarfism cannot be prevented, early diagnosis and treatment can help reduce its impacts on quality of life.
Dwarfism
Dwarfism is defined as an adult height of 4'10" or under and results from medical conditions that affect growth. It can be caused by metabolic disorders during infancy/childhood, chromosomal abnormalities, pituitary gland disorders, kidney disease, or problems absorbing nutrients. Anyone can be affected by dwarfism, as it can result from genetic mutations. The most common form is achondroplasia, which causes features like an enlarged head and bowed legs. Other types include spondyloepiphyseal dysplasias and diastrophic dysplasia. Dwarfism is diagnosed through physical exams, x-rays at birth or later genetic testing, and can be treated with physical and occupational therapy.
Approach to dysmorphic child
This document discusses an approach to evaluating children with dysmorphic features or congenital anomalies. It begins by outlining common birth defects, their estimated incidences, and potential causes. It then describes the goals and purposes of a dysmorphology evaluation, including establishing diagnoses, determining recurrence risks, and providing management and counseling. The rest of the document discusses specific aspects of evaluating congenital anomalies, such as recognizing normal and abnormal phenotypic variation, determining whether features are isolated or represent a genetic syndrome, and managing patient care.
Achondroplasia
Achondroplasia is a genetic bone disorder that causes dwarfism. It results from a mutation affecting the formation of cartilage and bone and is characterized by short stature and limb abnormalities. Achondroplasia is inherited in an autosomal dominant pattern, but 80% of cases result from new mutations. It occurs in approximately 1 in 25,000 live births. While there is no cure for achondroplasia, limb lengthening surgery can help increase height in some patients.
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This document provides an overview of evaluating a child with dysmorphism or congenital anomalies. It discusses taking a thorough history, including pregnancy, birth, medical, family histories. A detailed physical exam evaluates growth, appearance, specific anomalies. Investigations may include cytogenetics, FISH, biochemical tests to identify genetic or metabolic causes. Major categories of anomalies are discussed - malformations caused by disruptions, deformations from mechanical forces, and syndromes caused by chromosomal or single gene disorders. Specific genetic syndromes are reviewed based on their characteristic physical findings. The document aims to guide clinicians in recognizing patterns of anomalies and determining the likely genetic or environmental etiology.
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The document discusses congenital malformations, including:
- Types of congenital anomalies like major anomalies that interfere with normal functioning and minor anomalies that have only cosmetic significance.
- Causes of congenital anomalies which can be genetic like chromosomal or single gene defects, or non-genetic like drugs, infections, or maternal illness.
- Stages of normal morphogenesis and how abnormalities can occur if stages are incomplete, take an aberrant form, or functional defects develop. Timing of different malformations is outlined.
- Specific genetic syndromes are mentioned as causes for different malformation patterns. Deletion 22q11 syndrome is discussed in detail as a common microdeletion syndrome.
Achondroplasia
Achondroplasia is a genetic disorder and the most common cause of dwarfism. It is caused by a mutation in the FGFR3 gene which results in a change of the amino acid guanine being replaced by arginine. This mutation disrupts the bone growth plate resulting in disproportionately short stature with short arms and legs. There is no cure for achondroplasia but treatments can address related conditions and symptoms.
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What is a birth defect? pretty sure there is nothing better than brief straight forward information w/o loopy woopy.
Birth defects in general simple terms will be discused, then diving a little deeper.. specially the congenital disorders of the skeletal system.
I made this presentation as a 'seminar assignment', but then I thought why not sharing the info that I have.
*DISCLAIMER: A LOT of the information are from multi sources; My professors, my lectures, internet medical websites, medical textbooks, ..etc. If you find any mistake or a misleading info please do mention it so that everyone takes care and makes sure to get it right!.
**If you're a lecturer or a student whom happens to deliver a presentation on the same subject(s) and find mine useful to do the job (WITH CREDIT) then go bunkers!.
8 9 a,ryan shaw,achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism caused by mutations in a gene on chromosome 4. It affects bone growth, resulting in short arms and legs, a large head, and average trunk size. While there is no cure, treatments focus on managing health conditions like obesity and breathing issues that can arise.
Dwarfism
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to an underlying medical condition. It is caused by genetic mutations or disorders that affect bone growth and development. The most common type of dwarfism is achondroplasia which causes disproportionate short stature with normal trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height cannot be increased, treatment focuses on managing related health issues through surgery or hormone therapy.
Bloom's syndrome powerpoint
Bloom's Syndrome is a rare autosomal recessive genetic disorder where the average life expectancy is 24 years old. It causes short stature, low weight, rashes from sun exposure that prevent sports participation, low fertility in women, and increased risk of cancer and diabetes. While the disorder itself may not be fatal, individuals with Bloom's Syndrome often die from other conditions it increases susceptibility to, though treatment can help extend lifespan for each person.
Approach to the dysmorphic child
1. A thorough evaluation of the dysmorphic child includes obtaining a detailed family, birth, and medical history as well as a comprehensive physical exam.
2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
Genetic condition
This document provides information on several genetic conditions that can affect adolescents and adults. It summarizes 3 genetic conditions that can affect adolescents: adolescent idiopathic scoliosis, which causes abnormal curvature of the spine; juvenile myoclonic epilepsy, characterized by seizures beginning in childhood; and Leydig cell hypoplasia, which affects male sexual development. It also summarizes 3 conditions that can affect adults: Parkinson's disease, a progressive nervous system disorder; Alzheimer's disease, a degenerative brain disease and cause of dementia; and hereditary hemochromatosis, an iron overload disorder. For each condition, it discusses characteristics, frequency, genetic changes, and inheritance patterns.
Jacob's syndrome
Jacob's syndrome, also known as XYY syndrome, is a genetic condition where a male has an extra Y chromosome, occurring in about 1 in 1000 boys. It can cause symptoms like severe acne, learning disabilities, delayed motor skills, emotional issues, hypotonia, involuntary movements, above average height, large head size, low testosterone, and infertility, due to a cell division error prior to conception known as nondisjunction.
Dwarfism 1
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
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Achondroplasia is a genetic disorder that causes dwarfism by limiting the growth of long bones, resulting in disproportionately short stature where the limbs are shortened but head and trunk are normally sized. It is the most common type of dwarfism, with average adult heights of 131 cm for males and 123 cm for females, and is caused by an abnormality of cartilage formation. If both parents carry the mutant gene, it is very unlikely their child will survive past a few months due to the homozygous condition.
Achondroplasia
Achondroplasia is a type of dwarfism caused by a mutation in the FGFR3 gene, which regulates bone growth. It results in short limbs, an enlarged head, and limited joint movement. While it cannot be cured, treatment focuses on monitoring health, preventing complications, and alleviating symptoms like back pain and sleep apnea. People with achondroplasia can live normal lives through adaptations and with support from family and community.
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This document provides an overview of congenital bone and joint diseases. It begins with an introduction and outline of topics to be covered, including genetic aspects of orthopaedics, bone dysplasias, neuromuscular diseases affecting the spine, hip, knee and foot. The majority of the document then focuses on genetic aspects and principles of inheritance, followed by a classification system for bone dysplasias covering various conditions such as dwarfism, disorders around the growth plate affecting the epiphysis, metaphysis and vertebrae, and other specific bone dysplasias including achondroplasia, hypochondroplasia, and spondyloepiphyseal dysplasia. Radiological
Osteogenesis imperfecta
Osteogenesis imperfecta (OI), or brittle bone disease, is a genetic disorder characterized by fragile bones that fracture easily. It is caused by a defect in the body's production of type 1 collagen, which is important for bone strength. The majority of OI cases are inherited in an autosomal dominant pattern, though some are the result of spontaneous genetic mutations or are inherited autosomally recessively. OI has been classified into eight types based on severity and symptoms, which can include multiple fractures, skeletal deformities, short stature, and in severe cases, lethality in infancy. While there is no cure for OI, treatment aims to increase bone strength and prevent fractures through medications, physical therapy,
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Dwarfism is a genetic disorder characterized by abnormally short stature, with an adult height of 148 cm (4 feet 10 inches) or less. It has many potential causes, most commonly achondroplasia which accounts for 70% of cases. Dwarfism affects less than 200,000 people worldwide and has a prevalence rate of 0.5 to 1.5 in 10,000 births for achondroplasia. Common signs include short stature, large head, bowed legs, and joint issues. Complications can include obstetric difficulties, neurological problems, and osteoarthropathy of the knee joints. Support groups for dwarfism include the Restricted Growth Association and Little People of America.
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This document provides an overview of dwarfism (bone dysplasias), including classification, causes, signs and symptoms, radiographic findings, and treatment for various types. It discusses proportionate vs disproportionate dwarfism and classifications based on location and source. Specific types covered include achondroplasia, spondyloepiphyseal dysplasia, chondrodysplasia punctata, Kniest syndrome, metaphyseal chondrodysplasia, multiple epiphyseal dysplasia, and mucopolysaccharidoses. Treatment focuses on managing skeletal deformities and complications.
Matt & noah slideshow dwarfism
Dwarfism can be caused by factors like diet, sleep, hormones, and genetic mutations, and results in short stature under 4'10", potential health issues like sleep apnea and joint problems, and developmental delays. Doctors can treat underlying causes through nutrition, surgery, hormone therapy, and limb lengthening to help patients live healthy lives, and genetic counseling and testing may help predict conditions and prevent future cases.
Dysmorphism
Dysmorphism refers to abnormalities in morphological development where structures can appear in different forms. Dysmorphism can be facial or structural and is seen in dysmorphic features which are differences in body structure that can be isolated or related to genetic disorders. Common dysmorphic features include variations in eye spacing, philtrum length, and nose shape. The causes of dysmorphism include chromosomal abnormalities, single gene mutations, teratogen exposure, and environmental factors during development.
Blooms syndrome (wyatt evans)
Bloom syndrome is a rare genetic disorder characterized by dwarfism, a reddish skin rash sensitive to sunlight, and a predisposition to various cancers. It is caused when mutations in both copies of the BLM gene are inherited from asymptomatic carrier parents. Approximately 1 in 50,000 people have Bloom syndrome, with about one-third of cases occurring in those of Ashkenazi Jewish descent. While bone marrow transplants may help in some cases, there is currently no cure for Bloom syndrome.
Malformations
The document discusses congenital malformations, including:
- Types of congenital anomalies like major anomalies that interfere with normal functioning and minor anomalies that have only cosmetic significance.
- Causes of congenital anomalies which can be genetic like chromosomal or single gene defects, or non-genetic like drugs, infections, or maternal illness.
- Stages of normal morphogenesis and how abnormalities can occur if stages are incomplete, take an aberrant form, or functional defects develop. Timing of different malformations is outlined.
- Specific genetic syndromes are mentioned as causes for different malformation patterns. Deletion 22q11 syndrome is discussed in detail as a common microdeletion syndrome.
Achondroplasia
Achondroplasia is a genetic disorder and the most common cause of dwarfism. It is caused by a mutation in the FGFR3 gene which results in a change of the amino acid guanine being replaced by arginine. This mutation disrupts the bone growth plate resulting in disproportionately short stature with short arms and legs. There is no cure for achondroplasia but treatments can address related conditions and symptoms.
Birth Defects
What is a birth defect? pretty sure there is nothing better than brief straight forward information w/o loopy woopy.
Birth defects in general simple terms will be discused, then diving a little deeper.. specially the congenital disorders of the skeletal system.
I made this presentation as a 'seminar assignment', but then I thought why not sharing the info that I have.
*DISCLAIMER: A LOT of the information are from multi sources; My professors, my lectures, internet medical websites, medical textbooks, ..etc. If you find any mistake or a misleading info please do mention it so that everyone takes care and makes sure to get it right!.
**If you're a lecturer or a student whom happens to deliver a presentation on the same subject(s) and find mine useful to do the job (WITH CREDIT) then go bunkers!.
8 9 a,ryan shaw,achondroplasia
Achondroplasia is the most common form of short-limbed dwarfism caused by mutations in a gene on chromosome 4. It affects bone growth, resulting in short arms and legs, a large head, and average trunk size. While there is no cure, treatments focus on managing health conditions like obesity and breathing issues that can arise.
Dwarfism
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to an underlying medical condition. It is caused by genetic mutations or disorders that affect bone growth and development. The most common type of dwarfism is achondroplasia which causes disproportionate short stature with normal trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height cannot be increased, treatment focuses on managing related health issues through surgery or hormone therapy.
Bloom's syndrome powerpoint
Bloom's Syndrome is a rare autosomal recessive genetic disorder where the average life expectancy is 24 years old. It causes short stature, low weight, rashes from sun exposure that prevent sports participation, low fertility in women, and increased risk of cancer and diabetes. While the disorder itself may not be fatal, individuals with Bloom's Syndrome often die from other conditions it increases susceptibility to, though treatment can help extend lifespan for each person.
Approach to the dysmorphic child
1. A thorough evaluation of the dysmorphic child includes obtaining a detailed family, birth, and medical history as well as a comprehensive physical exam.
2. Minor anomalies and phenotypic variants can provide clues to narrow the differential diagnosis and include features such as epicanthal folds, clinodactyly, and pigmented nevi.
3. Additional diagnostic testing may include imaging studies like x-rays if skeletal abnormalities, and laboratory testing such as karyotyping to identify chromosomal abnormalities.
Genetic condition
This document provides information on several genetic conditions that can affect adolescents and adults. It summarizes 3 genetic conditions that can affect adolescents: adolescent idiopathic scoliosis, which causes abnormal curvature of the spine; juvenile myoclonic epilepsy, characterized by seizures beginning in childhood; and Leydig cell hypoplasia, which affects male sexual development. It also summarizes 3 conditions that can affect adults: Parkinson's disease, a progressive nervous system disorder; Alzheimer's disease, a degenerative brain disease and cause of dementia; and hereditary hemochromatosis, an iron overload disorder. For each condition, it discusses characteristics, frequency, genetic changes, and inheritance patterns.
Jacob's syndrome
Jacob's syndrome, also known as XYY syndrome, is a genetic condition where a male has an extra Y chromosome, occurring in about 1 in 1000 boys. It can cause symptoms like severe acne, learning disabilities, delayed motor skills, emotional issues, hypotonia, involuntary movements, above average height, large head size, low testosterone, and infertility, due to a cell division error prior to conception known as nondisjunction.
Dwarfism 1
Dwarfism is defined as an adult height of 4 feet 10 inches or under due to a medical condition. It is caused by genetic mutations or disorders that affect bone growth. The most common type of dwarfism is achondroplasia, which causes disproportionate short stature with normal-sized trunk and short limbs. Other types include diastrophic dysplasia and spondyloepiphyseal dysplasia. While height generally cannot be increased, treatments can address related health issues and in some cases surgery may help correct bone abnormalities.
Craniofacial anomalies /certified fixed orthodontic courses by Indian dental ...
Craniofacial anomalies /certified fixed orthodontic courses by Indian dental ...Indian dental academy
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.Achondroplasia
Achondroplasia is a genetic disorder that causes dwarfism by limiting the growth of long bones, resulting in disproportionately short stature where the limbs are shortened but head and trunk are normally sized. It is the most common type of dwarfism, with average adult heights of 131 cm for males and 123 cm for females, and is caused by an abnormality of cartilage formation. If both parents carry the mutant gene, it is very unlikely their child will survive past a few months due to the homozygous condition.
Achondroplasia
Achondroplasia is a type of dwarfism caused by a mutation in the FGFR3 gene, which regulates bone growth. It results in short limbs, an enlarged head, and limited joint movement. While it cannot be cured, treatment focuses on monitoring health, preventing complications, and alleviating symptoms like back pain and sleep apnea. People with achondroplasia can live normal lives through adaptations and with support from family and community.
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Scientific Writing for Campomelic dysplasia Dehradun, Uttrakhand
Scientific Writing for Campomelic dysplasia Dehradun, Uttrakhand
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Congenital Bone & Joint DiseasesDepartment of Orthopaedics & Trauma, Faculty of Medicine / King AbdulAziz University
This document provides an overview of congenital bone and joint diseases. It begins with an introduction and outline. The first section discusses genetic aspects, including basic genetic principles like chromosomes, genes, alleles, and patterns of inheritance. It describes numerical and structural chromosomal abnormalities. The second section covers bone dysplasias, including classification systems and a simplified classification covering disorders like dwarfism and abnormalities around the growth plate.Referat pedi I-Anggrian-HYPOPLASIA OF FEMUR.pptx
This document discusses femoral deficiency, also known as congenital short femur. It begins by outlining general principles for evaluating skeletal dysplasias, including measuring growth proportions. It then describes femoral deficiency, noting that it can range from isolated shortening of the femur to more severe cases involving defects of the proximal femur. The document covers diagnosis of skeletal dysplasias in childhood and adulthood, including clinical features, imaging, family history, and specialized testing. It concludes with discussing general principles for managing skeletal dysplasias, including communication, counseling, maintaining independence, and preventing/correcting deformities.
FETAL SKELETAL ANOMALIES GROUP 3.pptx
1. The document discusses various skeletal and limb anomalies that can be detected on prenatal ultrasound, including skeletal dysplasias, dysostoses, and disruptions.
2. Some of the most common skeletal dysplasias discussed are achondroplasia, achondrogenesis, osteogenesis imperfecta, and thanatophoric dysplasia.
3. Ultrasound findings of various anomalies are provided, along with descriptions of specific conditions like achondroplasia, achondrogenesis, osteogenesis imperfecta, and thanatophoric dysplasia. Prognosis and inheritance patterns are also summarized for some conditions.
geneticconditionppt-160505072640.pdf
This document summarizes several genetic conditions that can affect adolescents and adults. It discusses adolescent idiopathic scoliosis, juvenile myoclonic epilepsy, and Leydig cell hypoplasia for adolescents. For adults, it covers Parkinson's disease, Alzheimer's disease, and hereditary hemochromatosis. Each condition is described in terms of characteristics, frequency, genetic changes, and inheritance patterns. The document provides concise overviews of these genetic disorders.
boomerang dyspasia.pptx
Boomerang dysplasia is a lethal bone disorder characterized by bones malformed into a boomerang shape, especially in the arms and legs. It is caused by mutations in the FLNB gene, which regulates bone development. These mutations disrupt communication between cells and lead to abnormal bone and cartilage growth. Affected infants typically die in early infancy from complications of systemic bone malformations such as an underdeveloped rib cage and lungs.
imaging in intrauterine skeletal dysplasia
diagnostic
algorithm for use in fetuses with severe limb shortening
and/or abnormal mineralization.
Skeletal dysplasias are a heterogeneous group of conditions associated with abnormalities of the skeleton that are caused by widespread disturbance of bone growth beginning in fetal development. Prenatal diagnosis of skeletal dysplasias is challenging due to overlapping features between conditions, lack of molecular diagnosis for many disorders, and variability in phenotypic presentation. Ultrasound evaluation involves systematic imaging of the long bones, thorax, hands, feet, skull, spine, and pelvis to assess for abnormalities in bone shape, size, mineralization and the presence of other phenotypic features. Accurate diagnosis requires a multidisciplinary approach including
Osteogenesis imperfecta
Osteogenesis imperfecta and osteoporosis are heritable bone disorders characterized by fragile bones. Osteogenesis imperfecta arises from mutations affecting type 1 collagen production, resulting in bones that fracture easily. It is classified into 4 types based on severity, ranging from mild bone fragility to prenatal death. Osteoporosis is caused by failed bone resorption, leading to abnormally dense bones. It presents as infantile, intermediate, or adult-onset forms depending on age of symptoms onset. Treatment focuses on rehabilitation and surgery for osteogenesis imperfecta, while osteoporosis may be treated with medications to stimulate bone resorption.
Developmental disorder of musculoskeletal system
The document summarizes several developmental conditions of the musculoskeletal system including cartilaginous dysplasias, bone dysplasias, and miscellaneous conditions. Cartilaginous dysplasias discussed include multiple exostoses, enchondromatosis, achondroplasia, and metaphyseal dysplasia. Bone dysplasias include osteogenesis imperfecta, osteopetrosis, osteopoikilosis, and fibrous dysplasia. Miscellaneous conditions include multiple epiphyseal dysplasias, spondyloepiphyseal dysplasia, and various mucopolysaccharidoses like Hurler's disease and Morquio-Bra
Growth plate & Various disorders affecting growth plate by Dr.Vinay
This document summarizes a presentation on bone development and growth plate structure and function. It discusses the two types of ossification, intramembranous and endochondral, and describes the microscopic structure and zones of the growth plate. It also covers disorders that can affect the growth plate, including developmental dysplasias, metabolic conditions, infections, hormones, and trauma. Specific dysplasias discussed in detail include hereditary multiple exostosis, achondroplasia, hypochondroplasia, and dyschondrosteosis.
PRE DISPOSAL TO OSTEOPOROSIS.pptx risk factors to osteoporosis
Osteoporosis is a condition characterized by low bone density and fragile bones. It increases the risk of fractures, especially in the hip, spine, and wrist. Some key risk factors for osteoporosis include age, gender, family history, smoking, excessive alcohol intake, inadequate calcium and vitamin D intake, lack of exercise, and certain medical conditions. Maintaining bone health requires engaging in weight-bearing exercise, consuming a nutritious diet rich in calcium and vitamin D, and addressing any underlying risk factors.
Vol 23 congenital 4
The document discusses several congenital defects including osteogenesis imperfecta, cleidocranial dysplasia, progeria, proximal femoral focal deficiency disorders, and congenital anemias. It provides details on the genetic causes, clinical features, radiographic findings, and classification systems for each condition. For osteogenesis imperfecta, it describes mutations in type I collagen genes causing fragile bones, blue sclerae, and other connective tissue problems. Cleidocranial dysplasia involves missing or hypoplastic clavicles, open skull sutures, and dental abnormalities. Progeria resembles premature aging with short stature, skin changes, and bone demineralization. Proximal femoral focal
developmental condition of musculoskelatal system
This document summarizes several developmental conditions of the musculoskeletal system, including Osteogenesis Imperfecta, Mucopolysaccharidosis IV, Dysplasia Epiphysealis Multiplex, Osteopetrosis, Ollier Disease, Hereditary Multiple Exostoses, and Achondroplasia. It describes the genetic causes, clinical features, radiological findings, and management of each condition.
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Skeletal dysplasia
- 2. What the cause ? • The condition is caused by defective genes that either are inherited from a parent or mutate randomly during fetal development. Skeletal dysplasia is a generalized structural abnormality of bone growth and modelling. Bone modelling is a consequence of osteoblast and osteoclast activity and growth / morphogenetic factors are important in development. The main structural protein of bone and cartilage is collagen. Mutations in collagen genes cause generalized dysplasia.
- 3. When in doubt screen prenataly by U/S 1 – look for frontal bossing 2- bone length 3 –leg foot relationship 4- axial shape of chest cage 5- rib thickness and curvature 6- foot clubbing or inversion
- 5. Skeletal dysplasia could be lethal ! So How to classify ! What to look for to diagnose !
- 6. • The skeletal dysplasias are genetically heterogenous and can be inherited as autosomal dominant, • autosomal recessive, • X-linked recessive, • and X-linked dominant disorders, • and rarer genetic mechanisms of disease including chromosomal deletions/duplications, • germline mosaicism, • and uniparental disomy have been seen.
- 9. • Spondyloepiphyseal - SED congenita - SED tarda • Spondylometaphyseal - SMD kozlawski • Craniometaphyseal • craniodiaphyseal
- 10. Cleidocranial dysplasia. Radiographs of skull (A, B) show open fontanelles and wormian bones (arrows, A) and hot cross bone appearance (arrow, B). Radiograph of chest(C) shows hypoplastic right clavicle (arrow). Radiograph of hand (D) shows elongated second digit with an accessory epiphyseal centre (arrow) Radiograph of pelvis (E) shows " chef- hat " shaped femoral heads (arrow) and widened pubis
- 13. • Achondrogenesis • Thanatophoric dysplasia • Asphyxiating thoracic dysplasia • Osteogenesis imperfecta • Dysplasia epiphysialis punctata
- 33. • Osteopetrosis • Pyknodysostosis • Osteopoikilosis • Melorheostosis • Osteopathis striata • Sclerosteosis
- 70. MCHD
- 94. Poly ostotic fibdous dysplasia
- 103. Proximal femoral focal defeciency (PFFD)