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CASE REPORTS
JOURNAL ARTICLE
Autosomal dominant isolated question mark ear.
American Journal of Medical Genetics. Part A 2008 September 2
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.
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