All issues > Volume 43(7); 2000

Case Report

J Korean Pediatr Soc. 2000;43(7):983-987. Published online July 15, 2000.

A Case of Branchio-Oto-Renal Syndrome

Sung Kee SK Kim¹, Young Gyun YG Kim¹, Se Chang SC Ham¹, Se Wook SW Oh¹, Yong Won YW Park¹, Sang Woo SW Kim¹

¹Department of Pediatrics, College of M edicine, Inje University, Sang-Gye Paik Hospital*, Seoul, Korea

Abstract

Branchio-oto-renal(BOR) syndrome is an autosomal dominant disorder. The pathophysiology of this syndrome is unknown. BOR syndrome has a wide range of clinical manifestations affecting the branchial, auditory and renal systems. Associated abnormalities of the face, lacrimal duct, palate and ureters have also been described. However, the major clinical findings associated and/ or ear pits, and renal anormaly. We experienced a case of a 15-day-old male newborn who had visited our hospital for deformed auricle and atresia of external auditory canal found at birth. We report this case with a review of the related literatures.

Keywords :Branchial cleft, Renal anormaly, Deformed auricle, Atresia of external auditory canal