[Rehabilitation of orphan diseases in adulthood: osteogenesis imperfecta].

Abstract excerpt

Osteogenesis imperfecta (brittle bone disease) is an orphan disease caused by a genetic mutation in collagen metabolism. Bone fractures are the most common symptoms; however, the clinical manifestation can vary widely. Additional features can include blue sclera, dwarfism, bone deformities, muscular weakness, scoliosis, hearing loss and hypermobility of joints. Most patients show a reduction of skeletal function....

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