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Ralston S H. Diagnosis and management of osteogenesis imperfecta. Practitioner February 2022;266(1855):11-15

Diagnosis and management of osteogenesis imperfecta

24 Feb 2022Registered users

Osteogenesis imperfecta is a group of rare inherited skeletal disorders characterised by a greatly increased risk of fragility fractures. The reduction in bone strength is due to defects in its material properties and mineralisation. Low trauma fractures typically start in infancy e.g. as a consequence of falling when learning to walk. Rarely mild osteogenesis imperfecta can present for the first time during adulthood. Diagnosis is primarily clinical, based on a history of multiple low trauma fractures during infancy and childhood, and other clinical features.

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