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CHORUS

Collaborative Hypertext of Radiology


Musculoskeletal system

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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


Charles E. Kahn, Jr., MD  -  2 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
Wormian bones
cleidocranial dysostosis
absent distal clavicle
short limbs + osteopenia
progeria (Hutchinson-Gilford) syndrome
gastritis

 

Copyright © 2013, Charles E. Kahn, Jr.