Familial mixed deafness with branchial arch defects (earpits-deafness syndrome)

Clin Otolaryngol Allied Sci. 1985 Oct;10(5):271-7. doi: 10.1111/j.1365-2273.1985.tb00254.x.

Abstract

The earpits-deafness syndrome is a rare autosomal dominant condition. This report documents 4 families and describes the characteristic radiological features of both the inner and the middle-ear lesions. Prospects for surgical intervention are discussed.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Adult
  • Branchioma / genetics*
  • Ear / abnormalities
  • Ear / diagnostic imaging
  • Ear / surgery
  • Female
  • Head and Neck Neoplasms / genetics*
  • Hearing Loss / genetics*
  • Hearing Loss, Bilateral / diagnostic imaging
  • Hearing Loss, Bilateral / genetics*
  • Hearing Loss, Bilateral / surgery
  • Humans
  • Infant
  • Male
  • Pedigree
  • Radiography
  • Syndrome