oa Southern African Journal of Anaesthesia and Analgesia - Anaesthetic management in a patient with osteogenesis imperfecta and a fractured femur : case study
Anaesthesiologists frequently encounter rare congenital diseases and syndromes. Osteogenesis imperfecta (OI) is a fibro-osseous disorder of the collagen tissue. OI is also known as brittle bone disease, and is a genetic disorder of connective tissue in which bones fracture very easily, often for no apparent reason. The aetiology of the disease is a gene defect that produces very little or poor quality type 1 collagen, an important building block of bones. Usually, patients inherit the disease from a parent, but sometimes cases are sporadic and the result of new genetic mutation.
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