Triphalangeal thumb and brachyectrodactyly syndrome: An uncommon entity with evidence of geographic distribution

被引:0
作者
Zenteno, JC
Aguinaga, M
Chavez, V
Sastre, N
Rivera, MR
KofmanAlfaro, S
机构
[1] HOSP GEN MEXICO CITY,SERV GENET,SSA FAC MED,MEXICO CITY 06726,DF,MEXICO
[2] HOSP GEN MEXICO CITY,SERV CIRURGIA PLAST,SSA FAC MED,MEXICO CITY 06726,DF,MEXICO
关键词
brachydactyly; ectrodactyly; HOX genes; polydactyly; syndactyly; triphalangeal thumb;
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
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页码:152 / 155
页数:4
相关论文
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