PHENOTYPIC MANIFESTATIONS OF BRANCHIOOTORENAL SYNDROME

被引：145

作者：

CHEN, A

FRANCIS, M

NI, L

CREMERS, CWRJ

KIMBERLING, WJ

SATO, Y

PHELPS, PD

BELLMAN, SC

WAGNER, MJ

PEMBREY, M

SMITH, RJH

机构：

[1] UNIV IOWA,DEPT OTOLARYNGOL HEAD & NECK SURG,MOLEC OTOLARYNGOL RES LABS,IOWA CITY,IA 52242

[2] UNIV IOWA,DEPT RADIOL,IOWA CITY,IA 52242

[3] UNIV HOUSTON,DEPT BIOL,HOUSTON,TX 77204

[4] BOYS TOWN NATL RES HOSP,OMAHA,NE

[5] HOSP CHILDREN LONDON,LONDON,ENGLAND

[6] ROYAL NATL THROAT NOSE & EAR HOSP,DEPT RADIOL,LONDON WC1X 8DA,ENGLAND

[7] INST CHILD HLTH,MOTHERCARE UNIT CLIN GENET & FETAL MED,LONDON,ENGLAND

[8] UNIV NIJMEGEN HOSP,DEPT OTORHINOLARYNGOL,NIJMEGEN,NETHERLANDS

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1995年 / 58卷 / 04期

关键词：

BRANCHIOOTORENAL SYNDROME; SYNDROMIC HEARING LOSS; RENAL AGENESIS; COCHLEAR HYPOPLASIA;

D O I：

10.1002/ajmg.1320580413

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Branchiootorenal (BOR) syndrome is a variable, autosomal-dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract, We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely-angled promontories. (C) 1995 Wiley Liss, Inc.

引用

页码：365 / 370

页数：6

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