Osteogenesis imperfecta

Question 1

Osteogenesis imperfecta

Answer 1

• 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

Question 2

Types of Osteogenesis imperfecta: (most common? most severe?)

Answer 2

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