Phenotypic manifestations of branchiootorenal syndrome
A Chen, M Francis, L Ni, CWRJ Cremers… - American journal of …, 1995 - Wiley Online Library
A Chen, M Francis, L Ni, CWRJ Cremers, WJ Kimberling, Y Sato, PD Phelps, SC Bellman…
American journal of medical genetics, 1995•Wiley Online LibraryBranchiootorenal (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.© 1995 Wiley‐Liss, Inc.
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.© 1995 Wiley‐Liss, Inc.
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. © 1995 Wiley‐Liss, Inc.
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