150例肢端发育畸形患者的分类及对目前分类现状的探讨  

Classification of 150 patients with developmental malformations of acro and discussion of current classification status

作　　者：李明珊 肖世骞[1] 史静敏 杨付花 时文涛 李卫东 Li Mingshan;Xiao Shiqian;Shi Jingmin;Yang Fuhua;Shi Wentao;Li Weidong(Department of Pathology,Tianjin Hospital,Tianjin 300211,China)

机构地区：[1]天津医院病理科,天津300211

出　　处：《临床医学》2021年第11期8-12,共5页Clinical Medicine

摘　　要：目的对各种肢端发育畸形进行分类,以及对目前的分类现状进行探讨。方法对收集到的150例肢端发育畸形患者的临床病例资料进行回顾性分析。结果144例非综合征型肢端发育畸形患者中,多指(趾)畸形(PD)118例,其中轴前性多指(趾)畸形患者76例,轴后性多指(趾)畸形患者39例,中央型多趾4例;28例患者并指(趾)畸形(SD),其中Ⅰ型并指(趾)畸形患者11例,Ⅱ型并指(趾)畸形患者6例,Ⅲ型并指(趾)畸形患者4例,SD-Ⅵ型并指(趾)畸形患者2例,尚有5例并指(趾)畸形患者不能归入并指(趾)的五种分型中;短指畸形(BD)的患者4例,其中1例为BDA3型,3例患者同时存在并指(趾)畸形,尚不能归入短指畸形的分型;1例患者表现为左足复足畸形不能归入前述的分类中。其余6例患者除肢端畸形的表现外,同时存在其他系统或器官的症状。结论现有的肢端发育畸形的分类并不能囊括所有表型,对这些具有特殊表型的患者,可以从遗传学角度进一步去探求其可能的致病基因,扩充和完善现有的肢端发育畸形的分类和分型。Objective To classify various acro-developmental malformations and to discuss the current classification status.Methods The collected clinical data of 150 patients with acrodysplasia were retrospectively analyzed.Results Among the 144 patients with non-syndromic acrodysplasia,118 were with polydactyly(PD),of which 76 cases were with anterior polydactyly and 39 cases were with posterior polydactyly,4 cases of central polydactyly;28 cases of complex digit(toe)deformity(SD),of which 11 cases were typeⅠcomplex digit(toe)deformity,6 cases were typeⅡcomplex digit(toe)deformity,4 patients with typeⅢcomplex digit(toe)deformity,2 patients with SD-VI type digit(toe)deformity,and 5 patients with complex digit(toe)deformity could not be classified into the five types of digit(toe);there were 4 patients with brachydactyly(BD),of which 1 case was BDA3 type,and 3 cases had concurrent digit(toe)deformity,which could not be classified into the type of brachydactyly;1 case showed left foot bipedal deformity cannot be included in the aforementioned classification.In addition to the manifestations of acral deformities,the remaining 6 patients also had symptoms of other systems or organs.Conclusions The existing classification of acrodysplasia cannot cover all phenotypes.For these patients with special phenotypes,we can learn from the perspective of genetics,we will further explore its possible pathogenic genes,expand and improve the existing classification and typing of acrodysplasia.

关 键 词：肢端发育畸形 多指(趾) 并指(趾) 短指(趾) 复足 

分 类 号：R682[医药卫生—骨科学]