J Korean Pediatr Soc.
2000 Jul;43(7):983-987.
A Case of Branchio-Oto-Renal Syndrome
- Affiliations
-
- 1Department of Pediatrics, College of Medicine, Inje University.
- 2Sang-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 systerns. 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 rnale 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.
