鳃耳综合征伴肾结石1例报告  

Branchio-oto Syndrome with Kidney Stone:A Case Report

作　　者：唐毅 张陶 张霓霓 胡小华 姚礼 张立刚 李意俊 TANG Yi;ZHANG Tao;ZHANG Nini;HU Xiaohua;YAO Li;ZHANG Ligang;LI Yijun(Department of Oral and Maxillofacial Surgery,Hospital and School of Stomatology,Zunyi Medical University,Zunyi 563099,China)

机构地区：[1]遵义医科大学口腔医学院·附属口腔医院口腔颌面外科,贵州遵义563099

出　　处：《口腔医学研究》2025年第3期257-259,共3页Journal of Oral Science Research

摘　　要：鳃耳肾谱系障碍(Branchio-oto-renal spectrum disorders,BORSD),是一种复杂且罕见的常染色体显性遗传的综合性耳聋疾病,在临床上主要是指鳃耳肾综合征(Branchio-oto-renal syndrome,BORS),若无明显肾脏畸形,可称为鳃耳综合征(Branchio-oto syndrome,BOS)。本文报道1例BOS伴有肾结石的病例,并结合相关文献探讨以进一步了解该综合征。Branchio-oto-renal spectrum disorders(BORSD)is a complex and rare autosomal dominant inherited deafness syndrome.Branchio-oto-renal syndrome(BORS)is the main clinical condition.Branchio-oto syndrome(BOS)can be called if there is no obvious renal abnormality.A case of BOS associated with nephrolithiasis is reported.

关 键 词：鳃耳综合征 先天畸形 听觉丧失 鳃裂瘘 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]