Noonan综合征的诊断治疗进展

Diagnosis and treatment of Noonan syndrome

Noonan综合征（NS）是一种先天遗传性疾病,其临床特征包括特殊面容、矮身材、胸廓畸形、先天性心脏病,还可有多种其他系统的损害,易被忽视.现就近年来对NS的研究历史和基因型、临床表现及与基因型的相关性、临床诊治进展进行介绍。

Noonan syndrome（NS） is a congenital genetic disease characterized by distinctive facial features, short stature, chest deformity, congenital heart disease, and other eomorbidities. This article reviewed the research history of NS, the clinical manifestations and their relationship with genotype, the diagnosis and treatment.