本文报道先天性成骨不全症七例,均经长骨X线摄片证实。全部病例均有新旧多发性骨折及畸形愈合,3例巩膜呈兰色;死亡2例系由于反复颅骨或肋骨骨折分别死于颅内出血及气胸。现随访到的3例存活者1例6岁轻度跛行,另2例10岁及20岁均因进行性下肢畸形不能行走。本病尚无特殊药物治疗。预后极差。治疗本症主要是小心保护,使之免于骨折。这些病人并无智力障碍,也常能适应其较重的肢体畸形。 This article reports seven cases of congenital osteogenesis imperfecta, confirmed by long bone radiography. All cases were old and new multiple fractures and malunion, 3 cases of blue sclera; death in 2 cases due to repeated skull or rib fractures were died of intracranial hemorrhage and pneumothorax. One of 3 survivors who were followed up had a mild limpness at 6 years old. The other 2 cases, 10 years old and 20 years old, were unable to walk due to progressive lower limb deformity. The disease is no special drug treatment. Very poor prognosis. The main treatment of this disease is to be careful to protect it from fractures. These patients do not have mental retardation and can often adapt to their heavier limb deformities.