Jc. Zenteno et al., TRIPHALANGEAL THUMB AND BRACHYECTRODACTYLY SYNDROME - AN UNCOMMON ENTITY WITH EVIDENCE OF GEOGRAPHIC-DISTRIBUTION, Clinical genetics, 50(3), 1996, pp. 152-155
A new Mexican family with the triphalangeal thumb-brachyectrodactyly s
yndrome is described. The proposita, a 17-year-old female, showed the
classic malformation pattern: triphalangeal thumb, brachysyndactyly in
the hands and ectrodactyly in the feet. Several members of the family
had similar malformations, and others presented minor manifestations
of the disease (brachydactyly and nail dysplasia), This is the fourth
familial case reported in the literature with the triphalangeal thumb
and brachyectrodactyly complex and the third of Mexican origin, reflec
ting a geographical predominance in the occurrence of this uncommon pa
thology.