Autosomal dominant isolated question mark ear

Vered Shkalim, Noam Eliaz, Nehama Linder, Paul Merlob, Lina Basel-Vanagaite

Research output: Contribution to journalArticlepeer-review

Abstract

Question mark (Cosman) ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It can be inherited as an autosomal dominant trait. Only two families with more than one member with Question mark ear have been reported previously. Here we report on a female infant with bilateral isolated Question mark ear. The family history revealed a similar abnormality in her father and paternal grandfather. The similarity of the Question mark ear to the ear abnormalities described in auriculo-condylar syndrome (ACS) is discussed.

Original languageEnglish
Pages (from-to)2280-2283
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number17
DOIs
StatePublished - 1 Sep 2008

Keywords

  • Auriculo-condylar syndrome
  • Autosomal dominant
  • Question mark ear

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