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

作　　者：暴丽莎[1] 栗静 刘芳[1] BAO Lisha;LI Jing;LIU Fang(Department of Neonatology,People's Liberation Army of Bethune International Peace Hospital,Shijiazhuang 050082,Hebei,China)

机构地区：[1]中国人民解放军白求恩国际和平医院新生儿科,河北石家庄050082

出　　处：《临床儿科杂志》2020年第10期769-772,共4页Journal of Clinical Pediatrics

基　　金：河北省重点研发计划项目-健康医疗与生物医药专项(No.182777128D)。

摘　　要：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.

关 键 词：口-面-指综合征I型 临床特点 OFD1基因 

分 类 号：R725.9[医药卫生—儿科]