先天性多指畸形分子遗传学研究现状

先天性多指畸形是最为常见的四肢先天畸形,在临床、解剖以及分子水平都被学者所熟知并研究,目前研究最多的畸形,包括三节拇畸形,轴前多指,轴后多指,并指伴多指畸形等,都在国内外相关文献中有所报道.而现今先天性多指畸形的确切病因尚不明确,一般认为遗传是其主要原因,该畸形可单独存在,也可以综合征的形式表现,可多代家族遗传,也可以是散发,而其中散发病例中,尤以拇指复指最为多见 因此有必要进一步了解多拇畸形的分子遗传学病因,对既往所做的研究作一总结.

Advances in genetic research of congenital polydactyly

Congenital polydactyly is the most common congenital abnormality and has been well studied in clinical,anatomical and molecular levels.Most of the deformity,including triphalangeal thumb,preaxial polydactyly,postaxial polydactyly and synpolydactyly are reported;however,the exact etiology of congenital polydactyly is not clear yet.It is believed that heredity may be a main reason for this abnormality.Polydactyly can appear alone or in a form of the syndrome,familial inheritance,and sporadic cases.In the sporadic cases,thumb polydactyly is the most common form.Thus,it is necessary for us to understand the molecular etiology of thumb duplication through reviewing current data.