Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship

J Med Genet. 1986 Oct;23(5):459-60. doi: 10.1136/jmg.23.5.459.

Abstract

Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.

MeSH terms

  • Child
  • Ear, External / abnormalities*
  • Female
  • Genes, Recessive
  • Hearing Loss / genetics*
  • Hearing Loss, Conductive / genetics*
  • Humans
  • In Vitro Techniques
  • Infant
  • Male
  • Pedigree