Branchiootic syndrome—a clinical case report and review of the literature

Imad Amer, Adam Falzon, Natasha Choudhury, Khalid Ghufoor
Journal of Pediatric Surgery 2012, 47 (8): 1604-6
Branchiootoic syndrome is part of the spectrum of brachiootorenal disorders. Brachiootorenal disorder is a rare autosomal dominant condition, characterized by malformations of the outer, middle, and inner ear, which are associated with branchial and renal anomalies. We describe a case of bilateral branchiootoic syndrome and discuss the anatomy of second branchial cleft fistulae and the surgical management of this uncommon condition. We report the case of a 6-year-old girl referred to our department with bilateral intermittently discharging neck swellings. Clinical examination revealed bilateral branchial fistulae and preauricular sinuses, on a background of a positive family history of branchial fistulae. A magnetic resonance imaging scan confirmed the diagnosis of bilateral second branchial cleft fistulae. In view of her symptoms, she underwent bilateral branchial fistula excision and tonsillectomy with an uneventful postoperative recovery.

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