临床影像和病例报告杂志

Branchio-Oto-Renal Syndrome-A Rare Case

Ishwar Singh, Poonam Sagar*, Bhandari PS and Anil Kalra

Branchio-otorenal syndrome (BOR) is an autosomal dominant syndrome with high penetrance and variable expressivity. Congenital hearing loss, auricular malformations, branchial sinus and renal anomalies are major components. Minor manifestations may be variable. The present case report describes BOR in a 19 year boy whose father is also having same syndrome. Pedigree chart of five generations revealed strong family history. The present case had an uncommon presentation of facial palsy.