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osteogenesis imperfecta CHORUS

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Location: http://chorus.rad.mcw.edu/doc/00296.html

Description: "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

Type: Reference Material
Author/Contact: Charles E. Kahn, Jr., MD
Institution: CHORUS
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 1203
Added: Thu Jan 31 2002
Last Modified: Wed Jul 29 2009