口-面-指综合征Ⅰ型1例报告及文献回顾

The oral-facial-digital typeⅠsyndrome:a case report and literature review

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+2 T>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.