Unilateral Branchial Sinus with Unilateral Renal Agenesis: A Variant of BOR Syndrome? A Case Report

被引:4
作者
Safaya A. [1 ,2 ]
Shah S. [1 ]
Doshi B. [1 ]
机构
[1] Dr. DY Patil Hospital, Nerul, Navi Mumbai, Maharashtra
[2] Chembur, Mumbai, 400071, House No. 7, Bharat Tirtha Society
关键词
BOR-syndrome; Branchial sinus; Renal agenesis;
D O I
10.1007/s12070-011-0441-1
中图分类号
学科分类号
摘要
Patient presented with a congenital discharging branchial sinus. Pre-operative work up including a CT scan of the abdomen-pelvis revealed absence of the left kidney. Branchio-Oto-Renal (BOR) syndrome, a rare autosomal dominant disorder is characterized by branchial arch anomalies, otological and renal anomalies. Clinical manifestations tend to have considerable variability, But no case with branchial and renal abnormality sans otological defects has been described yet in the spectrum of BOR syndrome variants. © 2011 Association of Otolaryngologists of India.
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页码:356 / 358
页数:2
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