Phenotypic manifestations of branchio-oto-renal syndrome.
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.
Chen
A
A
Department of Otolaryngology-Head and Neck Surgery, University of Iowa, Iowa City 52242, USA.
Francis
M
M
Ni
L
L
Cremers
C W
CW
Kimberling
W J
WJ
Sato
Y
Y
Phelps
P D
PD
Bellman
S C
SC
Wagner
M J
MJ
Pembrey
M
M
D000015:Abnormalities, Multiple / Q000235:genetics; D001934:Branchial Region / Q000002:abnormalities*; D004423:Ear / Q000002:abnormalities*; D005260:Female; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014551:Urinary Tract / Q000002:abnormalities