Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree

Eur J Pediatr. 1994 Jun;153(6):446-50. doi: 10.1007/BF01983410.

Abstract

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / genetics
  • Branchial Region / abnormalities*
  • Ear / abnormalities*
  • Female
  • Humans
  • Infant
  • Kidney / abnormalities*
  • Pedigree
  • Syndrome