Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, China.
Chin Med J (Engl). 2012 Apr;125(7):1358-60.
Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member's pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.
成骨不全症是一组遗传性结缔组织疾病，其中 I 型胶原的合成或结构有缺陷，导致骨骼脆弱。IV 型成骨不全症为显性遗传。本文报道了一例 IV 型成骨不全症家系及其女性成员妊娠的病例。异常的超声发现（长骨明显弯曲和缩短）和家族史使胎儿的成骨不全症的诊断成立。父母决定放弃对婴儿的抢救，并在 27 周时行剖宫产术。总之，超声检查有可能对成骨不全症进行产前诊断。对于患有成骨不全症的孕妇，应根据个体情况做出管理决策。
