Marfan syndrome (MFS) is a multisystem connective tissue disease with autosomal dominant inheritance. It is mainly caused by FBN1 gene mutation and often has different clinical manifestations. Neonatal MFS is especially rare with severe conditions and a poor prognosis. At present, there is still no radical treatment method for MFS, but early identification, early diagnosis, and early treatment can effectively prolong the life span of patients. This article reviews the latest advances in the diagnosis and treatment of MFS.
马方综合征是一种常染色体显性遗传的多系统结缔组织疾病，主要由FBN1基因突变所致，临床表现不一，新生儿马方综合征尤其罕见，病情重，预后差。目前，尚无针对马方综合征的根治方法，早发现、早诊断、早治疗可有效延长患者的生存年限。该文就马方综合征的诊疗进展作一综述。.
Keywords: Child; FBN1 gene; Gene mutation; Marfan syndrome; Neonatal Marfan syndrome.