一例罕见的鳃-耳-肾综合征病例

"A Unique Case of Branchio-Oto-Renal Spectrum Disorder".

作者信息

Singh Digvijay, De Sritama, Singh Navdeep

机构信息

Present Address: Shri Balaji Institute of Medical Science, Dubey Colony, Mowa, Raipur, Chhattisgarh India 492014.

All India Institute of Medical Sciences, Raipur, Chhattisgarh India.

出版信息

Indian J Otolaryngol Head Neck Surg. 2024 Dec;76(6):6069-6073. doi: 10.1007/s12070-024-05100-0. Epub 2024 Oct 8.

DOI:10.1007/s12070-024-05100-0

PMID:39558987

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11569320/

Abstract

A 17 year old male patient presented with bilateral preauricular sinus, right sided second branchial cleft sinus and bilateral hearing deficit. He has previous history of right congenital cataract surgery and right dacryocystorhinostomy at the age of 8 year. He was operated for branchial sinus. No family history with similar complaint was observed. According to all these features this case was the variant of branchio-oto-renal spectrum disorder with de novo mutation. According to literature search this will be a unique and rare case report of BORSD published till date in India.

摘要

一名17岁男性患者出现双侧耳前窦、右侧第二鳃裂窦和双侧听力缺陷。他曾在8岁时接受过右侧先天性白内障手术和右侧泪囊鼻腔吻合术。他接受了鳃裂窦手术。未观察到有类似主诉的家族史。根据所有这些特征，该病例为伴有新发突变的鳃-耳-肾谱系障碍变异型。根据文献检索，这将是迄今为止印度发表的关于鳃-耳-肾谱系障碍的独特且罕见的病例报告。

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"A Unique Case of Branchio-Oto-Renal Spectrum Disorder".一例罕见的鳃-耳-肾综合征病例

Indian J Otolaryngol Head Neck Surg. 2024 Dec;76(6):6069-6073. doi: 10.1007/s12070-024-05100-0. Epub 2024 Oct 8.

Branchiootorenal Spectrum Disorder鳃耳肾综合征

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本文引用的文献

Branchiootorenal syndrome: A case report.鳃耳肾综合征：一例报告。

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Anatomical Changes and Audiological Profile in Branchio-oto-renal Syndrome: A Literature Review.鳃耳肾综合征的解剖学变化及听力学特征：文献综述

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Indian J Otolaryngol Head Neck Surg. 2014 Jan;66(Suppl 1):356-8. doi: 10.1007/s12070-011-0441-1. Epub 2012 Jan 1.

Non-inherited manifestation of bilateral branchial fistulae, bilateral pre-auricular sinuses and bilateral hearing loss: A variant of branchio-oto-renal syndrome.双侧鳃裂瘘管、双侧耳前窦道及双侧听力损失的非遗传性表现：鳃-耳-肾综合征的一种变异型

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Clin Genet. 1976 Jan;9(1):25-34. doi: 10.1111/j.1399-0004.1976.tb01546.x.

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