关键词: 口-面-指综合征I型; 临床特点； OFD1基因

Abstract: 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.

Key words: 　oral-facial-digital type I?syndrome; clinical feature; OFD1 gene