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.

Registered usersThis article can only be accessed if you are a registered user of thepractitioner.co.uk or a subscriber to The Practitioner.

To buy this article (£25+tax) copy the article citation above and click Buy article