口-面-指(趾)综合征Ⅰ型1例报告  

Oral-facial-digits syndromeⅠ:Case report

作　　者：邵现红[1] 付其宏[1] 刘杨[1] 朱保[1] 

机构地区：[1]杭州市口腔医院口腔颌面外科,浙江杭州310006

出　　处：《上海口腔医学》2004年第3期213-213,216,共2页Shanghai Journal of Stomatology

摘　　要：报告1例口-面-指(趾)综合征Ⅰ型患者,进行腭、舌和多生趾的矫正手术,术后患者舌运动接近正常,而语音功能不能完全恢复。认为患者的功能恢复取决于智力发育状况,OFDⅠ基因突变在发病中可能起着重要作用。To report a case of oral-facial-digits syndromeⅠwho underwent plastic surgery of tongue,palate and digital abnormalities.The tongue of the patient restored normal mobility approximately but the speech function could not recover completely.The function recovery of the patient depended on the degree of mental retardation,its possible mechanism was the mutation of OFDⅠgene.

关 键 词：口-面-指(趾)综合征 OFD Ⅰ基因 腭裂 

分 类 号：R725.9[医药卫生—儿科]