Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly).
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.
Lazalde
B
B
División de Genética, Centro de Investigación Biomédica de Occidente, Jalisco, México.
Sánchez-Urbina
R
R
Nuño-Arana
I
I
Bitar
W E
WE
de Lourdes Ramírez-Dueñas
M
M
D000293:Adolescent; D000328:Adult; D006332:Cardiomegaly / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital / Q000235:genetics / Q000473:pathology*; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics / Q000473:pathology*; D010375:Pedigree