Osteogenesis imperfecta
Brittle bone disease
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
August 7th 2010
Categories
Internal Medicine
Ophthalmology
Pediatrics
Links
Files & Images
Blue sclera
Teeth