osteogenesis imperfecta
"brittle bone disease": abnormalities of collagen/collagen production
- Type I
- autosomal dominant
- age at presentation: 2-6 years
- Type II (congenital lethal OI)
- autosomal recessive
- pre or perinatal death (pulmonary hypoplasia)
- Type III (severe prograssive OI)
- autosomal dominant
- marked progressive limb and spine deformity
- Type IV
- autosomal dominant
- most mild form
- demineralization, cortical thinning
- multiple fractures with pseudoarthrosis
- exuberant callus formation
- blue sclerae
- presenile deafness
- dentinogenisis imperfecta
- wide sutures + Wormian bones
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© 2002, C.E. Kahn, Jr.
2002-04-18