ESPE Abstracts

Introduction: Noonan syndrome (NS) is an autosomal dominant inherited, rare syndrome that occurs as a result of mutation in the PTPN11 gene. The most common mutation in Noonan syndrome occurs in the PTPN11 gene and characterized by short stature, developmental delay, congenital heart disease, renal anomalies, lymphatic malformations, distinctive facial features of NS: downslanting palpebral fissures, epicanthic folds, hypertelorism, low-set ears short neck, wi...