目的:探讨先天性并指畸形Ⅰ型的遗传和临床特征。方法:回顾分析1例先天性并指畸形Ⅰ型患者的临床资料,并调查该家系发病情况,绘制家族发病系谱。结果:调查发现该家系4代20人中现存先天性并指(趾)畸形者8例,其中7人均患手足并指,1人仅足部分并趾,其余12人手足均正常。结论:先天性并指畸形Ⅰ型符合常染色体显性遗传特点。
Objective: To investigate the genetic and clinical features of Syndactyly typeⅠ. Methods: Retrospective analysis of one case of Chinese kindred suffered from Syndactyly typeⅠ was done and a pedigree was drawn. Results: The pedigree showed a four-generation Han Chinese family. There were 20 members in the family. And 8 of them suffered from syndactyly type Ⅰ( 7 of them showed syndactyly in hands and feet,1 of them only showed syndactyly in feet),the remaining 12 were normal. Conclusion:Congenital syndactyly typeⅠis consistent with autosomal dominant inheritance.