Gimsing S, Dyrmose J
Ann Otol Rhinol Laryngol. 1986 Jul-Aug;95(4 Pt 1):421-6. doi: 10.1177/000348948609500419.
Branchio-oto-renal dysplasia, often called the BOR syndrome, in its full expression consists of hearing loss of conductive, sensorineural, or mixed type; preauricular pits; auricular deformities; lateral cervical sinuses, cysts, or fistulas; and renal malformations. The condition is inherited in an autosomal dominant mode. The findings in three affected families are described, and pertinent genetic and clinical aspects are discussed. The potential seriousness of the renal and aural malformations stresses the importance of early recognition of this syndrome.
鳃耳肾发育不全,通常称为BOR综合征,其完整表现包括传导性、感音神经性或混合性听力损失;耳前凹;耳部畸形;颈外侧窦、囊肿或瘘管;以及肾脏畸形。该病症以常染色体显性模式遗传。本文描述了三个患病家族的情况,并讨论了相关的遗传学和临床方面。肾脏和耳部畸形的潜在严重性凸显了早期识别该综合征的重要性。