A Case of Branchio-Oto-Renal Syndrome.
- Author:
Sung Kee KIM
1
;
Young Gyun KIM
;
Se Chang HAM
;
Se Wook OH
;
Yong Won PARK
;
Sang Woo KIM
Author Information
1. Department of Pediatrics, College of Medicine, Inje University.
- Publication Type:Case Report
- Keywords:
Branchial cleft;
Renal anormaly;
Deformed auricle;
Atresia of external auditory canal
- MeSH:
Branchial Region;
Branchio-Oto-Renal Syndrome*;
Ear;
Ear Canal;
Humans;
Infant, Newborn;
Palate;
Parturition;
Ureter
- From:Journal of the Korean Pediatric Society
2000;43(7):983-987
- CountryRepublic of Korea
- Language:Korean
-
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.
