先天性挛缩蜘蛛指畸形两个家系报道并文献复习  

Report of two families with congenital contractural arachnodactyly and literature review

作　　者：殷耀斌[1] 侯春梅[1] 田文[1] 赵俊会[1] YIN Yao-bin;HOU Chun-mei;TIAN Wen;ZHAO Jun-hui(Department of Hand Surgery,Beijing Jishuitan Hospital,Beijing,100035,China)

机构地区：[1]北京积水潭医院手外科,100035

出　　处：《中国骨与关节杂志》2020年第3期175-179,共5页Chinese Journal of Bone and Joint

基　　金：北京积水潭医院学科新星基金资助(XKXX201615);国家重点研发计划-罕见病临床队列研究-精准医学研究专项(2016YFC0901500)。

摘　　要：目的分析总结先天性挛缩蜘蛛指畸形的病例特点。方法通过汇报先天性挛缩蜘蛛指畸形2个家系病例特点,分析其家族遗传情况,并检索既往文献,总结先天性挛缩蜘蛛指畸形的临床特点及诊断要点。结果2例病例及其家族成员患者具有先天性挛缩蜘蛛指畸形的典型骨骼畸形、外耳畸形特点,符合先天性挛缩蜘蛛指畸形临床诊断标准。检索既往文献,共有33个CCA家系报道,其中中国家系报道有6个。结论先天性挛缩蜘蛛指畸形是一种罕见的先天性常染色体显性遗传疾病,以特征性外耳畸形、关节挛缩和蜘蛛样指畸形为表现。Objective To review clinical characteristics of congenital contractural arachnodactyly(CCA).Methods Malformation features of two families with CCA and their heredity were reported.Related literatures were reviewed and summarized to demonstrate clinical features and diagnosis of CCA.Results Two patients reported had classic malformation of skeletal system and auricle,which met the clinical diagnosis criterion of CCA.There were total 33 families with CCA reported in literature,among whom 6 were Chinese.Conclusions CCA is a rare autosomal dominant disorder characterized by crumpled ears,congenital contractures,and arachnodactyly.

关 键 词：指 遗传性疾病 先天性 手畸形 先天性 手 

分 类 号：R682.1[医药卫生—骨科学]