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

Research output: Contribution to journalArticle

148 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 languageEnglish (US)
Pages (from-to)365-370
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume58
Issue number4
DOIs
StatePublished - Sep 29 1995

Keywords

  • branchiootorenal syndrome
  • cochlear hypoplasia
  • renal agenesis
  • syndromic hearing loss

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    Chen, H. C., 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. (1995). Phenotypic manifestations of branchiootorenal syndrome. American Journal of Medical Genetics, 58(4), 365-370. https://doi.org/10.1002/ajmg.1320580413