Congenital conductive or mixed deafness, preauricular sinus, external ear anomaly, and commissural lip pits: an autosomal dominant inherited syndrome

Ann Otol Rhinol Laryngol. 1991 Nov;100(11):928-32. doi: 10.1177/000348949110001113.

Abstract

Branchiogenic syndromes such as branchio-oto-renal syndrome, Treacher Collins syndrome, and hemifacial microsomia are well delineated. From a clinical study in a large family spanning three generations, it can be concluded that the association of conductive deafness, commissural lip pits, preauricular sinuses, and external ear anomalies can be differentiated from the above-mentioned syndromes and is a separate autosomal dominant syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Acoustic Impedance Tests
  • Adult
  • Audiometry, Pure-Tone
  • Child
  • Ear, External / abnormalities*
  • Female
  • Genes, Dominant*
  • Hearing Loss, Conductive / congenital*
  • Humans
  • Male
  • Mouth Abnormalities / genetics
  • Pedigree
  • Syndrome