Phenotypic manifestations of branchio-oto-renal syndrome

Am J Med Genet. 1995 Sep 25;58(4):365-70. doi: 10.1002/ajmg.1320580413.


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.

Publication types

  • Multicenter Study

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Branchial Region / abnormalities*
  • Ear / abnormalities*
  • Female
  • Hearing Loss / genetics*
  • Humans
  • Kidney / abnormalities*
  • Male
  • Pedigree
  • Phenotype
  • Syndrome
  • Urinary Tract / abnormalities