Document Detail

External and middle ear malformations: autosomal dominant genetic transmission.
MedLine Citation:
PMID:  2802459     Owner:  NLM     Status:  MEDLINE    
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.
C A Oliveira; L C Pinheiro; M R Gomes
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  The Annals of otology, rhinology, and laryngology     Volume:  98     ISSN:  0003-4894     ISO Abbreviation:  Ann. Otol. Rhinol. Laryngol.     Publication Date:  1989 Oct 
Date Detail:
Created Date:  1989-11-21     Completed Date:  1989-11-21     Revised Date:  2006-05-15    
Medline Journal Info:
Nlm Unique ID:  0407300     Medline TA:  Ann Otol Rhinol Laryngol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  772-6     Citation Subset:  AIM; IM    
Department of Otolaryngology, Brasília University Medical School, Brazil.
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MeSH Terms
Ear, External / abnormalities*
Ear, Middle / abnormalities*
Genes, Dominant*

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