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Osteogenesis imperfecta type 2
rareOsteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.
- Identifiers
- MONDO:0008147 OMIM:166210Orphanet:216804
- Also known as
- lethal osteogenesis imperfecta · OI type 2 · OI2 · osteogenesis imperfecta congenita perinatal lethal form · osteogenesis imperfecta type II
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