Orthopedics > OCOSH Classification > Bone Diseases > Bone Developmental Diseases > Osteochondrodysplasia > Osteogenesis Imperfecta > osteogenesis imperfecta CHORUS
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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:
- - OCOSH Classification: Bone Diseases: Bone Developmental Diseases: Osteochondrodysplasia: Osteogenesis Imperfecta
- - OCOSH Classification: Investigations: Radiology - General: Radiology - Conditions
Submitted by: admin
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Added: Thu Jan 31 2002
Last Modified: Wed Jul 29 2009