马凡综合征的遗传学与临床诊治进展

Genetics and climcal progress of Marfan＇ s syndrome

马凡综合征（Marfan＇ s syndrome，MFS）是一种常染色体显性遗传性疾病，具有高度的外显率，临床表现多样，主要包括心血管、骨骼及眼等多个系统病变，近年来对MFS的病因与治疗有了一定的进展。该文就MFS的分子遗传学与临床表型的相关联系及其临床诊治进展作一综述，包含MFS的致病基因、基因突变定位、该病的诊断标准、临床表现及内外科治疗等；分子水平的检测目前已成为诊断MFS的重要手段，为该病的早期诊断乃至产前诊断提供了线索。

Marfan＇s syndrome（MFS） is a relatively common autosomal dominant hereditary disorder with prominent manifestations in the skeletal, ocular, and cardiovascular systems. MFS has a high penetrance. Recent research on the pathogenesis and diagnosis and therapy of MFS Ires made a lot of progress. So we reviewed the advance on the relation of molecular genetics and phenotype of MFS. We discussed the molecular basis, gene mutation and location, diagnosis, clinical features and therapy. Now the detection on the molecular level has been a very important method in diagnose. MFS very early or before born.