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Autosomal dominant isolated question mark ear
Author(s) -
Shkalim Vered,
Eliaz Noam,
Linder Nehama,
Merlob Paul,
BaselVanagaite Lina
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32452
Subject(s) - abnormality , anatomy , ear lobe , auricle , biology , medicine , psychiatry
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. © 2008 Wiley‐Liss, Inc.