Successful Term Pregnancy In A Woman With Noonan Syndrome: A Case Report

Abstract

First described by Noonan and Ehmke (1963), Noonan Syndrome is an Autosomal Dominant condition with variable expression. It is associated with short stature, short neck with webbing ( phenotypically like Turner Syndrome), cardiac anomalies particularly dysplastic pulmonary valve with Pulmonary stenosis(50%), atrial septal defect(10%), ventricular septal defect, patent ductus arteriosus, hypertrophic cardiomyopathy, a characteristic chest deformity with pectus excavatum inferiorly and pectus carinatum superiorly(70%), widespread nipple and hypertelorism. The chromosomes are normal. We report a case of a 29 yr old primigravida with Noonan Syndrome sought preconceptional counselling and conceived within 6 months. Throughout the antenatal period , she was followed up closely by a team comprising of Obstetrician, Cardiologist, Ultrasonologist and her General Practitioner.