成骨不全症合并股骨干骨折一例

1 case of osteogenesis imperfecta combined with the fracture in the femoral shaft

临床资料 女性,24岁,2010年12月2日因轻微外伤致左大腿肿痛、畸形、活动受限2h就诊,查体：患者智力发育正常,听力良好,语言清楚.头颅大小正常,双眼巩膜呈浅蓝色（图1）,牙齿发育良好,脊柱发育正常.左大腿中上段肿胀畸形明显,压痛,可扪及异常活动及骨擦感,下肢纵向叩击痛阳性.X线片示：骨盆扁平、不对称,

Osteogenesis imperfecta （0I） is an autosomal dominant disorder due to the obstruction in the formation of collagen type I, which is featured with the increase of the degree of bone fragility. Major manifestations in clinic： bone fragility, blue sclerae, hearing loss and mild-moderate skeletal deformity. 1 case of osteogenesis imperfecta combined with the fracture in the femoral shaft underwent open reduction, locked plate fixation and bone grafting in clinic, with good postoperative recovery.