成骨不全(osteogenesis imperfecta,OI)是一种遗传性骨骼疾病,其遗传方式主要为常染色体显性遗传,典型表现为骨质脆弱、蓝巩膜及耳聋三联征。临床特点是骨质异常脆弱,即使轻微创伤也可发生骨折,许多患者有管状骨、脊椎骨及颅骨的继发性畸形、身材矮小及进行性耳聋。 Osteogenesis imperfecta (OI) is a hereditary skeletal disease whose inheritance is mainly autosomal dominant inheritance. Typical manifestations are osteoporosis, blue sclera and deafness syndrome. The clinical feature is that the bone is extremely fragile and fractures can occur even with minor trauma. Many patients have secondary deformities, short stature and progressive deafness of the tubular bone, spine and skull.