Phenotypic manifestations of branchiootorenal syndrome

Hung Chih Chen; M. Francis; L. Ni; C. W.R.J. Cremers; W. J. Kimberling; Y. Sato; P. D. Phelps; S. C. Bellman; M. J. Wagner; M. Pembrey; R. J.H. Smith

doi:10.1002/ajmg.1320580413

Phenotypic manifestations of branchiootorenal syndrome

Hung Chih Chen, M. Francis, L. Ni, C. W.R.J. Cremers, W. J. Kimberling, Y. Sato, P. D. Phelps, S. C. Bellman, M. J. Wagner, M. Pembrey, R. J.H. Smith

Otolaryngology

Research output: Contribution to journal › Article › peer-review

150 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	365-370
Number of pages	6
Journal	American Journal of Medical Genetics
Volume	58
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.1320580413
State	Published - Sep 29 1995

Keywords

branchiootorenal syndrome
cochlear hypoplasia
renal agenesis
syndromic hearing loss

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Phenotypic manifestations of branchiootorenal syndrome",

abstract = "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.",

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AU - Chen, Hung Chih

AU - Francis, M.

AU - Ni, L.

AU - Cremers, C. W.R.J.

AU - Kimberling, W. J.

AU - Sato, Y.

AU - Phelps, P. D.

AU - Bellman, S. C.

AU - Wagner, M. J.

AU - Pembrey, M.

AU - Smith, R. J.H.

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AB - 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.

KW - branchiootorenal syndrome

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KW - syndromic hearing loss

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