以多囊肾首诊的Ⅰ型口-面-指综合征1例并文献复习

A case of type Ⅰ oral-facial-digital syndrome first diagnosed as polycystic kidney disease with literature review

口面指综合征(oral-facial-digital syndromes,OFDS)是一种主要表现为口腔异常、面部和骨骼畸形的罕见遗传性疾病。OFDS可依据临床表现和遗传模式分为16型,其中OFDSⅠ型呈X连锁显性遗传,多伴肾脏、神经系统畸形,特征为口、面、指畸形伴多囊肾。该病在遗传性囊性肾病中少见,临床表现不典型,认知率低。现报道以多囊肾首诊我科的OFDSⅠ型1例。