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

174 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 - 1995

Keywords

branchiootorenal syndrome
cochlear hypoplasia
renal agenesis
syndromic hearing loss

ASJC Scopus subject areas

Genetics(clinical)

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10.1002/ajmg.1320580413

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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.",

keywords = "branchiootorenal syndrome, cochlear hypoplasia, renal agenesis, syndromic hearing loss",

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

year = "1995",

doi = "10.1002/ajmg.1320580413",

language = "English (US)",

volume = "58",

pages = "365--370",

journal = "American Journal of Medical Genetics",

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TY - JOUR

T1 - Phenotypic manifestations of branchiootorenal syndrome

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.

PY - 1995

Y1 - 1995

N2 - 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.

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

KW - cochlear hypoplasia

KW - renal agenesis

KW - syndromic hearing loss

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Phenotypic manifestations of branchiootorenal syndrome

Abstract

Keywords

ASJC Scopus subject areas

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