Autosomal dominant isolated question mark ear.
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.
Shkalim
Vered
V
Schneider Children's Medical Center of Israel and Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Campus, Petah Tiqva, Israel.
Eliaz
Noam
N
Linder
Nehama
N
Merlob
Paul
P
Basel-Vanagaite
Lina
L
D004425:Ear Cartilage / Q000002:abnormalities*; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree