Objective：To analyze and summarize the clinical characteristics and genetic analysis results of 17 children with Noonan syndrome（NS），and to improve the diagnosis and expand the knowledge of the disease. Methods：The clinical data of 17 patients with NS who were diagnosed in Guangzhou Women and Children’s Medical Center from October 2015 to February 2021 were retrospec－tively analyzed. Gene analysis was performed using whole exome sequencing and Sanger sequencing. Results：Seventeen children including 11 boys and 6 girls were diagnosed with Noonan syndrome in our hospital and the median age was 4 years（5 months to 11 years and 10 months）. All cases had typical facial features of Noonan syndrome，accompanied by different degrees of psychomotor retardation，with 16 cases of short stature（SDS