Genetic study of Noonan Syndrome about 3 cases

Abstract

Noonan syndrome (NS) is an autosomal dominant multisystemic genetic disorder which in most cases is sporadic. It affects 1/1000 - 1/2500 individuals with no sex predominance. It is characterized by facial dysmorphia, cardiac malformation, small size and mental retardation. Our report highlights three observations of the Noonan syndrome collected in the pediatric ward at the Mohamed V Rabat military training hospital during 4 years. NS was genetically confirmed in our patients by identifying a mutation in the PTPN11 gene.