口-面-指综合征V型1例报告及文献复习

Oral-facial-digital syndrome type V: a case report and review of literature

口-面-指综合征(oral-facial-digital syndromes,OFDS)是一类主要表现为口腔颌面部畸形、骨骼畸形或伴有肾脏、神经系统等多系统畸形的先天性综合征,目前依据临床表现分为13种类型。本文报告1例V型病例,并复习最新分型及分子诊断进展。

The oral-facial-digital syndromes （OFDS） result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits, other organ systems can be involved. We reported a case of Thurston syndrom （oral-facial-digital syndrome type V） in a 4-year-old boy, who presented with multiple hyperplastic frenae, median cleft of upper lip, and polydactyly of right hand. To date, 13 types have been identified based on characteristic clinical manifestations, an updated list of these types was provided and recent molecular advances were discussed. According to earlier reports, Thurston syndrome was predominantly seen in subjects of Indian descent, our report implied this syndrome was also seen in Han population. Supported by Scientific and Technical Development Foundation of Suzhou Industrial Park（SIP1004PT135）.