TY - JOUR
T1 - Unilateral Branchial Sinus with Unilateral Renal Agenesis
T2 - A Variant of BOR Syndrome? A Case Report
AU - Safaya, A.
AU - Shah, S.
AU - Doshi, B.
PY - 2014
Y1 - 2014
N2 - 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.
AB - 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.
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U2 - 10.1007/s12070-011-0441-1
DO - 10.1007/s12070-011-0441-1
M3 - Article
AN - SCOPUS:84893799687
SN - 2231-3796
VL - 66
SP - 356
EP - 358
JO - Indian Journal of Otolaryngology and Head and Neck Surgery
JF - Indian Journal of Otolaryngology and Head and Neck Surgery
IS - SUPPL.1
ER -