通过对 47例心手综合征 (Holt Oramsyndrome ,HOS)病人上肢畸形和心脏缺损进行统计分析 ,发现心手综合征病人上肢畸形与心脏畸形均有很大的个体差异。这可能与引起心手综合征的致病基因TBX5基因突变的类型、突变位点不同 ,对基因功能损害程度不同有关。HOS具有遗传异质性 ,这种差异有可能是不同基因突变所引起 Through the statistical analysis of 47 cases of upper extremity malformations and heart defects in patients with Holt Oramsyndrome (HOS), it is found that there are great individual differences between upper limb deformities and cardiac malformations in patients with cardiac syndrome. This may be related to the type of TBX5 gene mutation that causes heart-hand syndrome, the mutation site, and the degree of damage to gene function. HOS genetic heterogeneity, this difference may be caused by different gene mutations