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Am J Med Genet ; 94(5): 421-7, 2000 Oct 23.
Artigo em Inglês | MEDLINE | ID: mdl-11050630

RESUMO

Cantú syndrome (CS) is characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and coarse facial appearance; autosomal recessive inheritance has been postulated. We report on a Mexican family with CS; the affected members are the 44-year-old father and his two children (a male and female), aged 14 and 4 years, respectively; each shows the classic characteristics, but the father and the brother also have a previously unreported feature, namely, a thick calvarium. This is the first reported instance of male-to-male transmission of CS. With the paternal age effect found in the reported sporadic cases and the segregation analysis [Robertson et al., 1999], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantú et al. [1982] could be explained by parental gonadal mosaicism.


Assuntos
Cardiomegalia/patologia , Genes Dominantes , Hipertricose/patologia , Osteocondrodisplasias/patologia , Adolescente , Adulto , Cardiomegalia/genética , Pré-Escolar , Saúde da Família , Feminino , Humanos , Hipertricose/congênito , Hipertricose/genética , Masculino , Osteocondrodisplasias/genética , Linhagem
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