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10 Cards in this Set
- Front
- Back
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achondroplasia
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- mutation in fibroblast growth receptor 3
- autosomal dominant |
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osteogenesis imperfecta (OGI)
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- abnormal type 1 collagen
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what is type I OGI characterized by?
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- autosomal dominant
- hearing loss - scleral thinning |
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what is type II OGI characterized by?
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- autosomal recessive
- stillborn fetus |
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what is type III OGI characterized by?
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- autosomal dominant OR recessive
- severe bone deformities - dentinogenesis imperfecta |
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what is type IV OGI characterized by?
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- autosomal dominant
- normal scleral thickness - variable bone deformities |
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osteopetrosis
(marble bone disease) (albers-schonberg disease) |
- decreased osteoclast function
- thick, brittle, sclerotic bones - cranial nerve compression / hydrocephalus often secondary |
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three types of osteopetrosis?
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- autosomal recessive variant (malignant type)
- autosomal dominant (benign type) - carbonic anhydrase II deficiency (renal tubular acidosis often secondary) |
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pathophysiology of osteopetrosis?
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- narrowing and fibrosis of medullary cavities leads to myelophythisis (displacement of bone marrow into blood stream)
- may result in pancytopenia (deficiency of RBCs, WBCs, platelets) |
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clinical findings of osteopetrosis
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- "erlenmeyer flask" shaped bone deformities
- symmetrical, generalized osteosclerosis |
