Autosomal Dominant Inheritance in Cantu ´
Syndrome (Congenital Hypertrichosis,
Osteochondrodysplasia, and Cardiomegaly)
Brissia Lazalde,
1,2
Rocı ´o Sa ´ nchez-Urbina,
1,2
Ismael Nun ˜ o-Arana,
1,2
Wadih E. Bitar,
3
and
Marı ´a de Lourdes Ramı ´rez-Duen ˜ as
1,2
*
1
Divisio ´n de Gene ´tica, Centro de Investigacio ´n Biome ´dica de Occidente, Jalisco, Me ´xico
2
Doctorado en Gene ´tica Humana, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara,
Jalisco, Me ´xico
3
Servicio de Traumatologı ´a y Ortopedia, Hospital de Especialidades, Centro Me ´dico Nacional de Occidente, Instituto
Mexicano del Seguro Social, Jalisco, Me ´xico
Cantu ´ syndrome (CS) is characterized by
congenital hypertrichosis, osteochondro-
dysplasia, cardiomegaly, and coarse facial
appearance; autosomal recessive inheri-
tance has been postulated. We report on a
Mexican family with CS; the affected mem-
bers 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], auto-
somal dominant inheritance is more likely
than autosomal recessive inheritance. The
cases of affected sibs reported by Cantu ´ et
al. [1982: Hum Genet 60:36–41] could be ex-
plained by parental gonadal mosaicism. Am.
J. Med. Genet. 94:421–427, 2000.
© 2000 Wiley-Liss, Inc.
KEY WORDS: hypertrichosis; osteochon-
drodysplasia; cardiomegaly;
autosomal dominant; pater-
nal age effect; gonadal mosa-
icism
*Correspondence to: Ramı ´rez Duen ˜ as, Divisio ´n de Gene ´tica,
Centro de Investigacio ´n Biome ´dica de Occidente, IMSS, apartado
postal 5–35 Guadalajara Jalisco, Me ´xico.
E-mail: ramirezl@udgserv.cencar.udg.mx
Received 17 February 2000; Accepted 25 May 2000
Fig. 1. Family pedigree.
American Journal of Medical Genetics 94:421–427 (2000)
© 2000 Wiley-Liss, Inc.