Branchio-oto-renal (BOR) syndrome is an autosomal dominant inherited disorder characterized by malformation of the external ear, cervical fistula, hearing loss, and renal anomalies. Branchio-oto (BO) syndrome is a part of BOR in which the phenotype shows only cervical fistula and hearing loss. We experienced two cases of BO syndrome in a Chinese family. Computed tomography (CT) with the injection of iodized oil through the external orifices revealed that these fistulas were originating from the 2nd pharyngeal arch remnants. Although both cases had Mondini type of anomaly, the shape of the kidneys as well as the renal function were normal. We excised the bilateral fistulas using nylon thread as a guide following a method previously reported. This is a simple and useful procedure involving only a small incision, which produces a favorable cosmetic result. The otoralyngologist - head and neck surgeon must be familiar with the embryology of the branchial apparatus, anatomy, and clinical manifestations as well as have knowledge of BOR and BO syndrome to establish an early diagnosis and appropriate therapy.
