Stoll C, Roth M P, Hessemann H, Paira M
Arch Fr Pediatr. 1983 Dec;40(10):763-6.
A pedigree of branchio-oto-renal dysplasia (BOR syndrome) is reported. BOR syndrome is an autosomal dominant disorder in which affected individuals may have branchial fistulas or cysts, preauricular pits, structural defects of the outer, middle an inner ear with hearing loss, and renal anomalies which may range from mild hypoplasia to complete absence. As shown in our pedigree, all carriers of the gene may not present with all features of the syndrome. In all individuals presenting with preauricular pits and branchial clefts, both otologic and renal investigations should be performed. Genetic counselling of family members is indicated.
本文报告了一例鳃耳肾发育不全综合征（BOR综合征）的家系。BOR综合征是一种常染色体显性疾病，患者可能出现鳃裂瘘管或囊肿、耳前凹、外耳、中耳和内耳的结构缺陷并伴有听力损失，以及肾脏异常，范围从轻度发育不全到完全缺失。如我们的家系所示，该基因的所有携带者可能不会表现出该综合征的所有特征。对于所有出现耳前凹和鳃裂的个体，均应进行耳科和肾脏检查。建议对家庭成员进行遗传咨询。
