Zenteno J C, Aguinaga M, Chávez V, Sastré N, Rivera M R, Kofman-Alfaro S
Servicio de Genética, Hospital General de México, SSa., Facultad de Medicine, UNAM.
Clin Genet. 1996 Sep;50(3):152-5. doi: 10.1111/j.1399-0004.1996.tb02371.x.
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.
本文描述了一个患有三指节拇指-短指并指综合征的新的墨西哥家庭。先证者是一名17岁女性，表现出典型的畸形模式：三指节拇指、手部短指并指以及足部缺指畸形。该家族的几名成员有类似畸形，其他成员则有该疾病的轻微表现（短指畸形和指甲发育异常）。这是文献中报道的第四例患有三指节拇指和短指并指综合征的家族病例，也是第三例源自墨西哥的病例，反映出这种罕见病理在发病方面的地域优势。
