Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

Am J Med Genet. 1983 Mar;14(3):473-8. doi: 10.1002/ajmg.1320140311.

Abstract

We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Ear, External / abnormalities*
  • Female
  • Genes, Dominant
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Kidney Pelvis / abnormalities*
  • Male
  • Syndrome
  • Ureter / abnormalities*