镜影手畸形的形态学特点  

Morphological characteristics of mirror hands

作　　者：赵宗璇 田文[1] 熊革[1] 孙丽颖[1] 赵俊会[1] 钟文耀 郭阳[1] 殷悦涵 张楠 李清扬 ZHAO Zong-xuan;TIAN Wen;XIONG Ge;SUN Li-ying;ZHAO Jun-hui;ZHONG Wen-yao;GUO Yang;YIN Yue-han;ZHANG Nan;LI Qing-yang(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》2022年第12期884-890,共7页Chinese Journal of Bone and Joint

基　　金：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);北京积水潭医院“学科新星”计划专项经费资助(XKXX201818,ZR-201911)。

摘　　要：目的 分析镜影手畸形的临床特征和形态学特点,为准确及全面了解该罕见畸形的形态学规律提供依据。方法 纳入2011年至2020年就诊于我院手外科,形态学诊断为镜影手的患儿18例,依据首次就诊时查体及检查结果对患儿形态学特征展开分析。结果 18例均符合镜影手Al-Qattan诊断标准,均无家族遗传史。男55.6%,女44.4%,初次手术平均月龄为39.6个月(n=16)。15例为单侧发病,另有Laurin-Sandrow综合征(Laurin-Sandrow syndrome,LSS) 1例,Martin综合征2例;11例伴有尺骨复肢畸形。11例为7指畸形,3例8指畸形,3例6指畸形和1例罕见的5指畸形。常见手部伴发畸形:并指(n=11/18),指间及掌指关节挛缩(n=10/18)和指间关节发育不良(n=8/18)。10例存在优势指蹼,7例位于尺侧4~5指间,2例位于尺侧5~6指间,1例位于尺侧3~4指间。结论 镜影手畸形以镜像性多指为特征表现,散发发病为主,并指、关节挛缩和关节发育不良是其常见伴发畸形,也可伴发手指偏斜、腕关节桡偏及肉赘样多指。Objective To analyze the clinical and morphological characteristics of mirror hands. Methods A retrospective study was conducted on 18 patients diagnosed as mirror hands from 2011 to 2020 in Beijing Jishuitan Hospital. The morphological characteristics were analyzed according to physical examination and tests at first visit.Results All 18 cases met the diagnostic criteria of Al-Qattan. There was no family genetic history. Male accounted for 55.6%, while female 44.4%. The average age of the first operation of 16 children was 39.56 months. Unilateral upper limb involvement was found in 15 cases and three were bilateral, including 1 case of LSS syndrome and 2 cases of Martin syndrome. 11 cases were accompanied by ulnar dimelia. There were 11 cases of 7-finger deformity, 3 of 8-finger deformity, 3 6-finger deformity and 1 rare 5-finger deformity. Common hand deformities included syndactyly( n = 11/18), interphalangeal and metacarpophalangeal joint contracture( n = 10/18) and interphalangeal joint dysplasia( n = 8/18). An accentuated web space was found in 10 patients, of which 70% was located on the fourth web on ulnar side. Conclusions Mirror hands deformity is mainly sporadic, characterized by mirror-image polydactyly.Syndactyly, joint contracture and joint dysplasia are common concomitant deformities of mirror hands. It can also be accompanied by finger deviation, radial deviation of wrist and fleshy polydactyly.

关 键 词：手畸形 先天性 多指畸形 Laurin-Sandrow综合征 

分 类 号：R682.5[医药卫生—骨科学]