I. Lordasanchez et al., INCREASED PARENTAL AGE AND NUMBER OF PREGNANCIES IN KLIPPEL-TRENAUNAY-WEBER-SYNDROME, Annals of Human Genetics, 62, 1998, pp. 235-239
The Klippel-Trenaunay-Weber syndrome (KTWS) is generally thought to oc
cur sporadically, following a somatic mutation model. However, in some
cases, clinical manifestations of the syndrome have been found in fam
ily members, suggesting an autosomal dominant inheritance. Here we pre
sent an epidemiological analysis of a consecutive series of cases with
KTWS identified in the Spanish Collaborative Study of Congenital Malf
ormations (ECEMC). We found an increase in parental age and in the num
ber of pregnancies, as well as familial occurrence of haemangiomas. Th
ese observations suggest a genetic contribution to the occurrence of K
TWS.