近年发现 ,一种以先天性多发畸形为特征的 Sm ith- L emli- Opitz综合征在胆固醇生物合成存在缺陷 ,该病做为遗传代谢病的一个新分支的代表病种引起多学科研究人员的兴趣 ,在诊断手段致病机制、产前诊断、动物模型方面都取得了长足的进展 ,本文对此做一综述 In recent years, Smith-Ligel-Opitz syndrome, characterized by congenital multiple malformations, has been found to be deficient in cholesterol biosynthesis as a representative disease of a new branch of the genetic metabolic disease caused by multidisciplinary researchers Interest in pathogenic mechanisms of diagnosis, prenatal diagnosis, animal models have made considerable progress, this article to do a review