Osteogenesis imperfecta

摘要

Osteogenesis Imperfecta (01) is an inherited disorder of type I collagen characterised by bone fragility and low bone mass.Severity varies widely, ranging from intrauterine fractures and perinatal death to very mild forms without fractures.Typical extra-skeletal manifestations are also associated variably with the disorder, and these include blue sclerae, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, hearing impairment, and presence of wormian bones on skull radiographs (see Tables 1 and 2). This article reviews the clinical manifestations, classification, pathogenesis and management of Ol (Figs. 1-3).