[External ear abnormalities: syndromic and genetic aspects].
Morphological defects of the external ear represent a significant class of congenital abnormalities because of their overall frequency and their impact on affected people. All types of congenital defects are involved in the study of the ear. The external ear is an important site for the study of minor phenotypic variations. Associated abnormalities are frequent and lead to syndromes identification. Some genes involved in syndromes with abnormal external ear as a feature have been recently cloned by molecular genetics.
Lacombe
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CHRU Pellegrin-Enfants, Service de Pédiatrie et Génétique Medicale, Université de Bordeaux II, France.
D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D004431:Ear, External / Q000002:abnormalities*; D006801:Humans; D013577:Syndrome