先天性裂手裂足畸形相关研究

Congenital cleft hand cleft foot deformities related research

通过对先天性裂手裂足一家系共15例患者的临床表现、遗传方式、临床分型等方面的分析研究,发现该家系中先天性裂手裂足畸形患者均为典型裂手裂足,且为非综合征型。此病在该家系中呈现典型的常染体显性的遗传方式,不同患者之间的临床表现度差异很大,存在明显的遗传异质性。

Through a congenital cleft hand cleft foot line analysis of clinical manifestations, the mode of inherit- ance, clinical type of 15 patients. It was found that the pedigrees of congenital foot deformity in patients with cleft hand cleft hand split foot crack were typical, and non-syndromic. The disease presents the typical pedigree body autosomal dominant mode of inheritance, clinical manifestations of the great differences between patients, the presence of significant genetic heterogeneity.