Weber K M, Kousseff B G
Department of Pediatrics, University of South Florida, Tampa 33617-3451, USA.
Clin Genet. 1999 Oct;56(4):306-12. doi: 10.1034/j.1399-0004.1999.560408.x.
Defined in 1975, branchio-oto-renal (BOR) syndrome is an autosomal dominant disorder consisting of branchial arch anomalies, hearing loss, and urinary tract malformations. It is the prototype of the non-chromosomal syndromes that have branchial arch anomalies as major clinical manifestations: BOR, branchio-otic (BO), branchio-otic-facial (BOF), and Townes-Brock syndromes. Subsequently, several clinical manifestations have expanded its phenotype. Retrospective analysis of 31020 families evaluated between January 2, 1982 and December 31, 1996 at the genetic clinics of the University of South Florida, showed seven probands with BOR/?BOR syndrome. Four of the probands and affected relatives had manifestations that further expanded the phenotype: gustatory lacrimation, hypospadias, imperforate anus, osteosclerosis, microcephaly, hypodontia, congenital vocal cord paresis, and congenital incomplete fixation of the transverse colon. Thus, BOR/ ?BOR syndrome appears to be a clinically and genetically heterogeneous multiorgan/system entity that manifests itself predominantly during organogenesis. Clinicians and researchers alike should be cognizant of the expanded phenotype and heterogeneity, while in the DNA laboratories the latter will be sorted out.
鳃耳肾（BOR）综合征于1975年被定义，是一种常染色体显性疾病，由鳃弓异常、听力损失和尿路畸形组成。它是以鳃弓异常为主要临床表现的非染色体综合征的原型：BOR、鳃耳综合征（BO）、鳃耳面综合征（BOF）和汤姆斯-布罗克综合征。随后，一些临床表现扩展了其表型。对1982年1月2日至1996年12月31日期间在南佛罗里达大学遗传诊所评估的31020个家庭进行的回顾性分析显示，有7名先证者患有BOR/？BOR综合征。其中4名先证者及其受影响的亲属有进一步扩展表型的表现：味觉性流泪、尿道下裂、肛门闭锁、骨硬化、小头畸形、牙发育不全、先天性声带麻痹和先天性横结肠固定不全。因此，BOR/？BOR综合征似乎是一种临床和遗传异质性的多器官/系统实体，主要在器官发生过程中表现出来。临床医生和研究人员都应该认识到其扩展的表型和异质性，而在DNA实验室中，后者将被梳理清楚。
