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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| http://dx.doi.org/10.1007/s12070-011-0441-1 | DOI Listing |
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