先天性脊柱骨骺发育不全

Sponduloepiphyseal dysplasia congenital

目的:研究罕见的先天性脊柱骨骺发育不全(SEDC)的遗传家系,提供骨遗传病资源。方法:对一SEDC家系进行调查,并对1例先证者的临床各相关检查、影像学及染色体进行分析。结果:发现SEDC家族中四代9例患者有共同的临床特征,主要侵犯脊椎、髋关节、股骨头、颈椎。结论:SEDC遗传方式为常染色体显性遗传。可能为胚胎期基因缺陷致骨骺生长层发育障碍。进一步的分子病因学研究可为该病的家系遗传预测提供依据。

Objective：To report and analyze a rare family of sponduloepiphyseal dysplasia congenital （SEDC） in order to supply more resources for genetic bone disease. Methods ： Investigation and analy- sis was performed on a four generation＇s family of SEDC. Clinic characteristics including X-ray image and chromosome analysis were evaluated. Results ： Nine persons suffered from SEDC in this four generation＇s family. The patients presented with same clinical characteristics. The main bone damages affected vertebrae, articulatio coxae, caput femoris and neck. Conclusion ：The mode of inheritance of SEDC may be autosomal dominant inheritance. Gene defect during embryonic period may interfere the growth of osteoepiphysis. Further molecular pathologic studies were needed to find the evidence of genetic prognostication of SEDC.