A case of PTPN11 mutation-related Noonan syndrome

Noonan Syndrome (NS) is an autosomal dominant disorder in which parents with Noonan syndrome have a 50percent chance of passing the mutation to their children, most commonly due to a mutation in the PTPN11 gene. In a clinical case, we identified a male child who showed clinical features such as short stature, congenital heart disease and a peculiar facial appearance, strongly suspecting Noonan syndrome. The purpose of this article is to report the presentation of a case of Noonan syndrome.