先天性短指畸形的发病机制、分类及治疗进展

Etiology, Classification and Treatment of Brachydactyly

先天性短指畸形(Brachydactyly,BD)是指由指(趾)骨或掌骨(跖骨)发育异常引起的一系列指(趾)缩短畸形。根据Bell的描述,短指畸形可分为A、B、C、D、E等五型。随着对短指畸形治疗的探索和研究的逐渐深入,BD又陆续被区分出若干亚型,其中,A3及D型最常见。研究发现,BD存在明显的家族遗传倾向,并与基因突变密切相关。本文综述了BD的国际分类、分子遗传学及治疗方案的研究进展,为BD的深入研究和治疗方案提供思路。

Brachydactyly（BD） is a congenital deformity that refers to shortening of the hands/feet due to small or missing metacarpals/metatarsals and/or phalanges characterized by bone dysostosis. According to Bell＇s classification, BD can be divided into to five categories： A to E. Recent years, new subtypes were advocated. Among these, BDA3 and BDD may be the most common subtypes. The deformity was close related to familial inheritance and gene mutations. In this review, the advancements in etiology, classification and treatments of brachydactyly were summarized.