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Questions and Answers
Achondroplasia is a recessive disorder resulting from accelerated cartilage growth.
Achondroplasia is a recessive disorder resulting from accelerated cartilage growth.
False
Dysplasia is a localized abnormality in the migration and condensation of mesenchyme.
Dysplasia is a localized abnormality in the migration and condensation of mesenchyme.
False
Type I collagen diseases are caused by an overproduction of type I collagen.
Type I collagen diseases are caused by an overproduction of type I collagen.
False
Osteopetrosis is characterized by increased bone resorption and skeletal rarefaction.
Osteopetrosis is characterized by increased bone resorption and skeletal rarefaction.
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Mutations in osteopetrosis lead to proper acidification of osteoclast resorption pit.
Mutations in osteopetrosis lead to proper acidification of osteoclast resorption pit.
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Severe infantile osteopetrosis is often fatal due to thrombocytopenia.
Severe infantile osteopetrosis is often fatal due to thrombocytopenia.
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Achondroplasia is a major cause of dwarfism.
Achondroplasia is a major cause of dwarfism.
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Individuals with osteogenesis imperfecta have normal hearing.
Individuals with osteogenesis imperfecta have normal hearing.
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Study Notes
Congenital Anomalies
- Congenital anomalies result from localized abnormalities in mesenchyme migration and condensation (dysostosis) or global disorganization of bone and/or cartilage (dysplasia).
Achondroplasia
- Achondroplasia is an autosomal dominant disorder caused by retarded cartilage growth due to gain-of-function mutations in fibroblast growth factor receptor 3 (FGFR3).
- It is the most common skeletal dysplasia and a major cause of dwarfism.
- Affected individuals have shortened proximal extremities, a trunk of relatively normal length, and an enlarged head with specific facial features.
Type I Collagen Diseases (Osteogenesis Imperfecta)
- Osteogenesis Imperfecta is the most common inherited disorder of connective tissue caused by deficiencies in the synthesis of type I collagen.
- It principally affects bone and other tissues rich in type I collagen.
- The inheritance pattern is autosomal dominant.
- The fundamental abnormality is too little bone, leading to extreme skeletal fragility.
Osteogenesis Imperfecta - Other Findings
- Blue sclerae are due to decreased collagen content.
- Hearing loss is related to sensorineural deficit and impeded conduction.
- Dental imperfections include small, misshapen, and blue-yellow teeth due to dentin deficiency.
Osteopetrosis
- Osteopetrosis is also known as marble bone disease, characterized by reduced bone resorption and skeletal sclerosis.
- Bones are abnormally brittle and fracture easily.
- The condition is classified into variants based on inheritance and clinical severity.
Osteopetrosis - Genetic Mutations
- Genetic mutations interfere with acidification of osteoclast resorption pit.
- Bones lack medullary canal, with bulbous and misshapen long bone ends.
Osteopetrosis - Clinical Features
- Small neural foramina compress exiting nerves.
- Primary spongiosa persists, filling medullary cavity.
- Severe infantile osteopetrosis is often fatal due to leukopenia despite extramedullary hematopoiesis.
Osteopetrosis - Mild Form
- Mild autosomal dominant form may not be detected until adolescence or adulthood.
- It is often discovered on radiographic studies for repeated fractures.
- Individuals may have mild cranial nerve deficits and anemia.
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Description
This quiz covers congenital anomalies, including dysostosis and dysplasia, and achondroplasia, a common skeletal dysplasia causing dwarfism. It explores the causes and effects of these conditions.
