目的　探讨口-面-指综合征I型的临床及基因变异特点。方法 回顾分析1例口-面-指综合征I型患儿的临 床资料及基因检测结果，并复习相关文献。结果 患儿，女，生后2天因吸吮差、先天性腭裂收入院。患儿面容特殊，前额 突出、眼距宽、内眦赘皮、小下颌、耳位低、腭裂、多叶舌（两叶）、舌错构瘤、牙槽嵴增厚、面部发育不对称、脚趾畸形。基 因组测序及生物信息分析显示X染色体OFD1基因3号内含子c.312+2T>A（胸腺嘧啶>腺嘌呤）杂合变异。结论 患儿 确诊为口-面-指综合征Ⅰ型，此病例扩充了OFD1基因变异谱。

Objective? To?explore?the?clinical?and?genetic?variation?characteristics?of?the?oral-facial-digital?type?I syndrome. Method? The clinical data and gene test results of oral-facial-digital type I?syndrome?in?a?child?were?retrospectively?analyzed,?and? the?related?literature?was?reviewed.?Results? The?girl?was?admitted?to?the?hospital?2?days?after?birth?due?to?weak?suck?and?congenital? cleft?palate.?She?presented?a?distinctive?facial?appearance?such?as?frontal?bossing,?hypertelorism,?epicanthic?folds,?a?micro?chin,? low-set?ears,?cleft?palate,?multi-lobulated?tongue?(two?lobes),?tongue?hamartoma,?thick?alveolar?ridges,?facial?asymmetry?and?toe? deformity.?Genomic?sequencing?and?bioinformatics?analysis?showed?a?heterozygous?mutation,?c.312?+?2T>A?(thymine?>?adenine),? in intron 3 of OFD1 gene on the X chromosome. Conclusion? The?child?was?diagnosed?with?oral-facial-digital?syndrome,?and?the? OFD1?gene?mutation?spectrum?was?expanded.