Branchio-Oto-Renal Syndrome.
- Author:
Chul HWANG
1
;
Dae Hun KIM
;
Seung Ju BAEK
;
Young LEE
;
Young Joon SEO
;
Jeung Hoon LEE
Author Information
1. Department of Dermatology, College of Medicine, Chungnam National University, Daejeon, Korea. jhoon@cnu.ac.kr
- Publication Type:Case Report
- Keywords:
Branchial fistula;
Branchio-oto-renal (BOR) syndrome;
Familial;
Hearing loss
- MeSH:
Adolescent;
Biopsy;
Branchio-Oto-Renal Syndrome;
Female;
Fistula;
Hearing Loss;
Humans;
Neck;
Parturition;
Skin
- From:Korean Journal of Dermatology
2009;47(9):1039-1042
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Branchio-oto-renal (BOR) syndrome is a rare congenital anomaly that is characterized by preauricular pits, branchial fistula and hearing impairment and it is often combined with renal anomalies. BOR syndrome is inherited in an autosomal dominant mode and the mutations of two genes, EYA1 and SIX1, have been identified. We experienced a case of a 14-year-old female who complained of bilateral neck openings and hearing loss that were found at birth the girl's family had a familial tendency for these features. A skin biopsy from the cervical lesion showed the characteristic features of branchial fistula. We report here on a case of BOR syndrome and we review the relevant literature.
