Branchio-oto-renal syndrome.

Recent advances in oto-laryngology.

Anesthetic management of a patient with branchio-oto-renal syndrome

Branchio-oto-renal syndrome (BOR) is a rare autosomal dominant disorder. The features include branchial cysts, hearing loss, ear malformation, preauricular pits, retrognathia, congenital heart disease, and renal abnormalities. However, anesthetic management of these patients has seldom been reported. We report a case in which general anesthesia was performed for dental treatment in a patient wi...

Modification of Classic Reconstructive Techniques and Evaluation of New Esthetic Methods in Terms of the Expectations of Modern Oto-rhino-laryngology and Head-neck Surgery

A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome.

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by branchial cleft fistulae or cysts, preauricular pits, ear malformations, hearing loss, and renal anomalies. Mutations in the human homologue of the Drosophilia eyes absent gene (EYA1) are the most common cause of BOR syndrome. In this study, we found a Korean family showing clinical features of the disease. Mut...

Case report of a novel mutation of the EYA1 gene in a patient with branchio-oto-renal syndrome

Branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder characterized by the coexistence of branchial cysts or fistulae, external ear malformation with pre-auricular pits or tags, hearing impairment and renal malformations. However, the presence of the main features varies in affected families. Here, we present a 16-year-old boy admitted to the Department of Nephrology at the Pediat...