아가미-귀 증후군 환자에서 발견된 양측 제3형 새열기형 1예

Abstract

Branchio-otic (BO)-syndrome is a relatively uncommon genetic disease, and is characterized by branchial fistulae, congenital preauricular fistulae, and anomalies of the pinnae, external, middle, and inner ears, accompanied by hearing loss. The phenotype varies, so that degree of hearing loss and the type of branchial fistulae vary depending on the patient. Branchial cleft anomaly is common feature of BO syndrome (63%), and most of them are 2nd branchial cleft anomaly. There have been no reports of BO syndrome with 3rd or 4th branchial cleft anomaly published in literature. We report a case of bilateral 3rd branchial cleft anomaly in a 22 year-old male patient with BO syndrome, who treated with chemical and electrocauterization therapy, with a review of literatures.