title: External and middle ear malformations: autosomal dominant genetic transmission.
abstract: Congenital malformations of the external and middle ear relatively frequent anomalies (one to five cases in 20,000 live births). They are part of genetic syndromes such as Treacher Collins and Goldenhar's syndromes, but most cases are isolated and sporadic. A few cases of familial incidence of isolated external and middle ear malformations with autosomal recessive, autosomal dominant, and sex-linked modes of transmission have been described. We report on two siblings with almost identical anomalies of the external and middle ear and no other congenital defects. Their father had similar malformations, but nobody else in his large sibship presented ear malformations. The defects were also absent in two previous generations. We discuss the possibility, not previously mentioned in the literature, that these congenital malformations could have appeared by spontaneous mutation in the father and transmitted themselves as an autosomal dominant trait to his children.
authors: Department of Otolaryngology, Brasília University Medical School, Brazil.
authors: C A
authors: CA
authors: Oliveira
authors: L C
authors: LC
authors: Pinheiro
authors: M R
authors: MR
authors: Gomes
mesh_terms: D002648:Child; D004431:Ear, External / Q000002:abnormalities*; D004432:Ear, Middle / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree