TRIPHALANGEAL THUMB AND BRACHYECTRODACTYLY SYNDROME - AN UNCOMMON ENTITY WITH EVIDENCE OF GEOGRAPHIC-DISTRIBUTION

Citation
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
Citations number
9
Categorie Soggetti
Genetics & Heredity
Journal title
ISSN journal
00099163
Volume
50
Issue
3
Year of publication
1996
Pages
152 - 155
Database
ISI
SICI code
0009-9163(1996)50:3<152:TTABS->2.0.ZU;2-A
Abstract
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.