Osteogenesis imperfecta Flashcards
1
Q
Osteogenesis imperfecta
A
- Remember the B’s (the blue, brittle boned, beaded ribbed, bruised, bad-mouthed boy who cant hear)
- Mutation of type I collagen (COL1A1 and COL1A2)
- Skin: thin, atrophic, transluscent skin, easy bruisability
- Bones: Brittle bones+fractures, Beaded ribs
- Eyes/Ears/Mouth: blue sclera in 90% of pts. Hearing loss due to otosclerosis. Fragile/discolored/misformed teeth
- Systemic: Mitral/aortic valve prolapse/dilatation and regurgitation
2
Q
Types of Osteogenesis imperfecta: (most common? most severe?)
A
types I and IV can have normal lifespan
type I= most common, mild
Type II = most severe (fatal in perinatal period)
Type III = increased mortality in 3rd decade due to respiratory failure 2/2 kyphoscoliosis
