Korean J Otorhinolaryngol-Head Neck Surg.
2011 Jul;54(7):493-496. 10.3342/kjorl-hns.2011.54.7.493.
A Case of Branchio-Otic Syndrome
- Affiliations
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- 1Department of Otorhinolaryngology-Head and Neck Surgery, Inje University School of Medicine, Pusan Paik Hospital, Busan, Korea. heokw96@inje.ac.kr
- KMID: 2277263
- DOI: http://doi.org/10.3342/kjorl-hns.2011.54.7.493
Abstract
- Branchio-oto-renal (BOR) syndrome is a clinically heterogeneous autosomal dominant form of syndromic hearing loss characterized by variable hearing impairment, malformations of the pinnae, the presence of branchial arch remnants, and various renal abnormalities. BOR syndrome is caused by mutations in EYA1 and SIX1, which are critical to organogenesis and are expressed together in developing otic, branchial, and renal tissue. Branchio-otic (BO) syndrome comprises branchial fistulas and preauricular pits, but lacks renal anomalies. We present a case of BO syndrome in 30year-old man with a review of the literature.
