Childhood Noonan Syndrome Presenting with Severe Pulmonary Stenosis: A Rare Case Report

Abstract

Noonan syndrome [NS] is an autosomal dominant inherited condition that can be passed down through families. The incidence of NS is estimated to be between 1:1000 and 1:2500 live births. It causes abnormal development in many parts of the body. It is used to be called Turner-like syndrome. Though most of the cases are autosomally inherited some cases may be sporadic. We report a case of 13 year old male child presented to us with features of short stature, dysmorphic facies and severe pulmonary valvular stenosis without any family history of similar illness. Keywords: Noonan Syndrome, Pulmonary valvular stenosis.