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) |
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Pages (from-to) | 365-370 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics |
Volume | 58 |
Issue number | 4 |
DOIs | |
State | Published - Sep 29 1995 |
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Keywords
- branchiootorenal syndrome
- cochlear hypoplasia
- renal agenesis
- syndromic hearing loss
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Phenotypic manifestations of branchiootorenal syndrome. / Chen, Hung Chih; Francis, M.; Ni, L.; Cremers, C. W.R.J.; Kimberling, W. J.; Sato, Y.; Phelps, P. D.; Bellman, S. C.; Wagner, M. J.; Pembrey, M.; Smith, R. J.H.
In: American Journal of Medical Genetics, Vol. 58, No. 4, 29.09.1995, p. 365-370.Research output: Contribution to journal › Article
}
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 - 1995/9/29
Y1 - 1995/9/29
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
UR - http://www.scopus.com/inward/record.url?scp=0028990685&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0028990685&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320580413
DO - 10.1002/ajmg.1320580413
M3 - Article
C2 - 8533848
AN - SCOPUS:0028990685
VL - 58
SP - 365
EP - 370
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 4
ER -