Noonan syndrome-A rare case report

Abstract

Noonan syndrome is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects and skeletal malformations. It may be sporadic or inherited as an autosomal dominant or recessive trait and occurs, one in 1,000-2,500 children. Genetic mutations responsible for Noonan syndrome, PTPN11 was identified on chromosome number 12 resulting in a gain of function of the nonreceptor protein tyrosine phosphatase SHP-2 protein. We hereby report a case of 18 years old male presenting with the features like short stature, pectus excavatum, frontal bossing, hypertelorism, mid facial hypoplasia and clinodactyly of digitis. Two dimensional imaging was performed for conformation of the diagnosis. Multidisciplinary treatment is the key to success in managing patients with Noonan syndrome.