Mandibulofacial dysostosis: report on two Brazilian families suggesting autosomal recessive inheritance.
Am J Med Genet
; 46(6): 659-64, 1993 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-8362908
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Genes Recessivos
/
Disostose Mandibulofacial
Limite:
Adult
/
Child
/
Female
/
Humans
/
Male
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Am J Med Genet
Ano de publicação:
1993
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Estados Unidos