口腔医学研究

口腔医学研究 ›› 2025, Vol. 41 ›› Issue (3): 257-259.DOI: 10.13701/j.cnki.kqyxyj.2025.03.015

• 病例报告 • 上一篇    下一篇

鳃耳综合征伴肾结石1例报告

唐毅, 张陶, 张霓霓*, 胡小华, 姚礼, 张立刚, 李意俊   

  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
  • 出版日期:2025-03-28 发布日期:2025-03-25
  • 通讯作者: *张霓霓,E-mail:kqzhangni@163.com
  • 作者简介:唐毅(1999~ ),男,湖南浏阳人,住培医师,硕士在读,研究方向:口腔颌面肿瘤外科学。

Branchio-oto Syndrome with Kidney Stone: A Case Report

TANG Yi, ZHANG Tao, ZHANG Nini*, HU Xiaohua, YAO Li, ZHANG Ligang, LI Yijun   

  1. Department of Oral and Maxillofacial Surgery, Hospital and School of Stomatology, Zunyi Medical University, Zunyi 563099, China
  • Online:2025-03-28 Published:2025-03-25

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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。

关键词: 鳃耳综合征, 先天畸形, 听觉丧失, 鳃裂瘘

Abstract: 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.

Key words: branchio-oto syndrome, congenital malformation, hearing loss, branchial cleft fistula