A Unique Case of Branchio-Oto-Renal Spectrum Disorder

被引：0
作者：
Singh, Digvijay [3 ]
De, Sritama [2 ]
Singh, Navdeep [1 ]
机构：
[1] Raipur Inst Med Sci, Raipur, Chhattisgarh, India
[2] All India Inst Med Sci, Raipur, Chhattisgarh, India
[3] Shri Balaji Inst Med Sci, Dubey Colony, Raipur 492014, Chhattisgarh, India
来源：
INDIAN JOURNAL OF OTOLARYNGOLOGY AND HEAD & NECK SURGERY | 2024年 / 76卷 / 06期
关键词：
Preauricular Sinus; Brachial Sinus; Branchio-oto-renal Syndrome; BOR SYNDROME; VARIANT; EYA1;
D O I：
10.1007/s12070-024-05100-0
中图分类号：
R61 [外科手术学];
学科分类号：
摘要：
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.
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页码：6069 / 6073
页数：5
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