遗传性成骨不全家系分析

Hereditary osteogenesis imperfecta in a Chinese family

目的探讨遗传性成骨不全(osteogenesis imperfecta,OI)一家系特征。方法 2011年6月对河南安阳OI家系进行问卷调查、专科检查,搜集临床资料,绘制家系图谱,分析临床特点和遗传方式。结果该家系4代40人,患者10例,现存活患者7例,其中男5例,女2例。存活7例均存在骨折病史、骨骼畸形、蓝色巩膜、牙齿发育异常,3例听力受损,3例出现骨折愈合不良。结论该家系临床诊断符合Sillence I型成骨不全,遗传方式为常染色体显性遗传。

Objective To study the features of hereditary osteogenesis imperfecta in a Chinese family tree. Methods Hereditary osteogenesis imperfecta in a family of Anyang City, Henan Province, China, was investigated with questionnaire. The family underwent examination in our department and its clinical data were collected. An atlas was plotted for the family. The clinical features of hereditary osteogenesis imperfecta and its hereditary mode were analyzed. Results There were 40 members including 4 generations in the family. Of the 10 members with hereditary osteogenesis imperfecta, 7 were survivors （5 males and 2 females） with a history of fracture, bone deformity, blue sclera and teeth dysplasia, 3 had hearing impairment and 3 had poor fracture healing. Conclusion The clinical diagnosis of hereditary osteogenesis imperfecta in the family is consistent with Sillence I osteogenesis imperfecta with autosomal dominant inheritance as its hereditary mode.