Microtia with meatal atresia and conductive deafness: mild and severe manifestations within the same sibship.
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.
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