Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases.

To analyze the clinical manifestations, genetic features and therapeutic efficacy of patients with Noonan syndrome (NS). The clinical data of 12 NS children treated in Fuzhou Children' Hospital of Fujian Medical University from September 2015 to April 2021 were analyzed. Among them, 7 patients with height lower than two standard deviations of the mean (or below the third percentile) were treated with recombinant human growth hormone (rhGH), and were followed up every The clinical characteristics were as following: facial anomalies (=12), short stature (=11), congenital heart diseases (=5), facial freckles (=4), coffee spots on the skin (=3), intelligence disability (=3),cryptorchidism (=3), feeding difficulties (=2), scoliosis (=2), pectus carinatum (=2), pectus excavatum (=1), rib dysplasia companied with short finger (=1), hyperopia (=1), myopia (=1) and early puberty (=1).