Daggilas A, Antoniades K, Palasis S, Aidonis A
Department of ENT, G. Papanikolaou Hospital, Thessaloniki, Greece.
Head Neck. 1992 Mar-Apr;14(2):139-42. doi: 10.1002/hed.2880140211.
Branchio-oto-renal dysplasia in its full expression consists of external ear malformations, cervical fistulas or cysts, preauricular pits, hearing loss of conductive sensorineural or mixed type, and renal anomalies. The syndrome is inherited in an autosomal dominant mode. We present a sporadic case of BOR dysplasia associated with tetralogy of Fallot in a 30-month-old girl. The clinical aspects of the disease are discussed briefly.
完全型鳃-耳-肾发育不全包括外耳畸形、颈瘘或囊肿、耳前凹、传导性、感音神经性或混合型听力损失以及肾脏异常。该综合征以常染色体显性模式遗传。我们报告了一名30个月大女孩患鳃-耳-肾发育不全并伴有法洛四联症的散发病例。本文简要讨论了该疾病的临床情况。