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|Title:||Autosomal dominant inheritance in Cantu syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly)|
De Ramirez-Duenas, M.L.
|Abstract:||Cantu 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: Am J Med Genet 85:395-402], autosomal dominant inheritance is more likely than autosomal recessive inheritance. The cases of affected sibs reported by Cantu et al. [1982: Hum Genet 69:36-41] could be explained by parental gonadal mosaicism. (C) 2000 Wiley-Liss, Inc.|
|Appears in Collections:||Producción científica UdeG|
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