口-面-指综合征Ⅰ型5例临床分析  

Retrospective analysis of 5 cases with oral-facial-digital syndrome typeⅠ

作　　者：汤晓雨 古东坤 李冬 牛谦云 乌丹旦[3] TANG Xiao-yu;GU Dong-kun;LI Dong;NIU Qian-yun;WU Dan-dan(Department of Oral and Maxillofacial Surgery,Nanyang Stomatological Hospital,Nanyang 473013,Henan Province;Nursing Department,Nanyang Stomatological Hospital,Nanyang 473013,Henan Province;Department of Oral and Craniomaxillofacial Surgery,Shanghai Ninth People’s Hospital,College of Stomatology,Shanghai Jiao Tong University School of Medicine,National Clinical Research Center for Oral Diseases,Shanghai Key Laboratory of Stomatology&Shanghai Research Institute of Stomatology,Shanghai 200011,China)

机构地区：[1]南阳市口腔医院口腔颌面外科,河南南阳473013 [2]南阳市口腔医院护理部,河南南阳473013 [3]上海交通大学医学院附属第九人民医院·口腔医学院口腔颅颌面科国家口腔疾病临床医学研究中心上海市口腔医学重点实验室上海市口腔医学研究所,上海200011

出　　处：《中国口腔颌面外科杂志》2020年第6期539-543,共5页China Journal of Oral and Maxillofacial Surgery

基　　金：国家重点研发计划项目(2016YFC1000502)。

摘　　要：目的:分析口-面-指综合征Ⅰ型的临床特征,探讨其临床诊断与治疗方法。方法:回顾2015年11月—2019年9月诊治的5例口-面-指综合征Ⅰ型患者的临床资料,总结临床诊疗经验。结果:5例患者均为女性,存在口腔、面部畸形,3例存在手指畸形,2例母亲患者均有无诱因流产史,且伴多囊肾,3例幼儿患者未见多囊肾。舌龈系带矫正术、分叶舌及腭裂整复术后形态功能恢复良好,舌尖结节病理证实为错构瘤。结论:口-面-指综合征Ⅰ型表型多样,可合并其他系统性缺陷,需与其他分型相鉴别。建议以手术整复畸形和改善功能障碍为主的多学科综合序列治疗,注意其他系统性缺陷的检查,以指导患者的医疗管理和健康监测。PURPOSE:To analyze the clinical features in 5 individuals with oral-facial-digital syndrome type I,and investigate the diagnosis and therapy of oral-facial-digital syndrome typeⅠ.METHODS:A retrospective study was conducted in 5 patients with oral-facial-digital syndrome typeⅠfrom November 2015 to September 2019.The experience in diagnosis and treatment was summarized and analyzed.RESULTS:Five patients with oral-facial-digital syndrome typeⅠwere all females and were examined clinically and radiographically,associated oral and facial malformations were observed in 5 patients,digital malformations were observed in 2 patients,polycystic kidney disease was observed in2 mothers with abortion history.All the patients had satisfied functional and esthetic results.The pathology of tongue nodules was hamartoma.CONCLUSIONS:Oral-facial-digital syndrome typeⅠhad complex phenotype and always complicated with other systemic malformations.Multidisciplinary comprehensive sequence therapy was necessary,surgical treatment was used to correct the malformation and dysfunction.Other systemic malformations must be examined,which will guide health surveillance and medical management of these patients.

关 键 词：口-面-指综合征Ⅰ型 X连锁显性遗传 多囊肾 综合序列治疗 

分 类 号：R782.2[医药卫生—口腔医学]