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Am J Med Genet ; 46(6): 659-64, 1993 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-8362908

RESUMO

We report on mandibulofacial dysostosis in 2 brothers born to normal nonconsanguineous parents, and a girl (F = 1/16) born to normal consanguineous parents. Normal clinical, skeletal, audiologic, and cephalometric studies in the parents, as well as the absence of limb anomalies in these children, exclude the autosomal recessive (Nager and Genée-Widemann) mandibulofacial dysostoses. The data of the present patients associated with the few additional reports on mandibulofacial dysostosis recurring in sibs, suggest the possibility of an autosomal recessive Treacher Collins-like mandibulofacial dysostosis.


Assuntos
Genes Recessivos , Disostose Mandibulofacial/genética , Adulto , Brasil , Criança , Feminino , Humanos , Masculino
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