Autosomal dominant microtia

Eur J Med Genet. 2010 Mar-Apr;53(2):100-3. doi: 10.1016/j.ejmg.2010.02.002. Epub 2010 Feb 10.


Microtia (MIM600674) is a congenital malformation which occurs in 1/8000-10000 births. It is characterized by a small, and abnormally shaped pinna. It ranges in severity from a bump of tissue to a partially formed ear cup. Microtia is often associated with atresia of the external auditory canal. Familial microtia with meatal atresia has been reported, either with dominant or recessive inheritance, which makes genetic counselling difficult in sporadic cases. In the present paper, we report the case of a family with congenital microtia and conductive deafness in two generations, suggesting autosomal dominant inheritance with variable expression and incomplete penetrance.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Ear Auricle / abnormalities*
  • Genes, Dominant
  • Genetic Counseling
  • Genetic Variation
  • Hearing Loss, Conductive / diagnosis
  • Hearing Loss, Conductive / genetics*
  • Humans
  • Male
  • Models, Genetic
  • Pedigree
  • Penetrance