Korean J Otorhinolaryngol-Head Neck Surg.
2024 Jul;67(7):406-411. 10.3342/kjorl-hns.2023.00934.
A Case of Auricle Deformity With 2nd Branchial Cleft Anomaly in Patient With Branchio-Otic Syndrome
- Affiliations
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- 1Department of Otorhinolaryngology-Head and Neck Surgery, Wonkwang University Hospital, Wonkwang University School of Medicine, Iksan, Korea
- 2Department of Otorhinolaryngology-Head and Neck Surgery, Kangwon Natonal University Hospital, Kangwon National University School of Medicine, Chuncheon, Korea
- KMID: 2558028
- DOI: http://doi.org/10.3342/kjorl-hns.2023.00934
Abstract
- Branchio-oto-renal (BOR) Syndrome is a rare autosomal dominant genetic disorder characterized by features such as branchial arch anomalies, hearing loss, preauricular fistula, auricular malformations, and renal abnormalities. Also, BOR syndrome without renal anomalies is referred to as branchio-otic syndrome. In this report, we present a case of a 50-year-old female patient with bilateral type 2 branchial arch anomalies, both preauricular fistula, bilateral inner ear malformations, bilateral sensorineural hearing loss, and right auricular malformation. The patient underwent surgical treatment. This report is the first documentation in Korea of auricular malformation in BOR syndrome, where the patient’s family exhibited a typical autosomal dominant inheritance pattern.
