Triphalangeal thumb and brachyectrodactyly syndrome: an uncommon entity with evidence of geographic distribution.
A new Mexican family with the triphalangeal thumb-brachyectrodactyly syndrome 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, reflecting a geographical predominance in the occurrence of this uncommon pathology.
Zenteno
J C
JC
Servicio de Genética, Hospital General de México, SSa., Facultad de Medicine, UNAM.
Aguinaga
M
M
Chávez
V
V
Sastré
N
N
Rivera
M R
MR
Kofman-Alfaro
S
S
D000293:Adolescent; D005260:Female; D005843:Geography; D006801:Humans; D008297:Male; D010375:Pedigree; D017689:Polydactyly / Q000235:genetics*; D011859:Radiography; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities* / Q000000981:diagnostic imaging