Osteogenesis imperfecta Brittle bone disease

Osteogenesis imperfectaOsteogenesis imperfecta
  • Facts:
    Autosomal dominant disease
    Defect in type 1 collagen synthesis
    Four different types (type 2 is most severe, die in utero)
  • History / PE:
    Blue sclerae
    Limb deformities
    Multiple fractures
    Growth retardation, scoliosis
  • Associated With:
    Dentinogenesis imperfecta (discolored, translucent, weak teeth)
    Hearing loss



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August 7th 2010