title: Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.
abstract: Hereditary malformations of the external ear, such as microtia and meatal atresia, not associated with other congenital defects or syndromes, are rarely reported. Only a few familial cases have been described in which both dominant and recessive inheritance has been suggested. We report a sibship in which a wide variation of expression is present and recessive inheritance can be postulated.
mesh_terms: D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005808:Genes, Recessive; D034381:Hearing Loss / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D066298:In Vitro Techniques; D007223:Infant; D008297:Male; D010375:Pedigree