Noonan Syndrome in a Nigerian Neonate: A Case Report and Review of Literature

Abstract

Noonan syndrome (NS) is a genetic condition with a heterogeneous phenotype and multi-systemic involvement. This condition has been linked to mutations in the RAS/MAPK pathway, which is involved in cell differentiation. Noonan syndrome has been associated with multiple anomalies, with complications arising from the cardiovascular system, and this has been recognized as the commonest cause of death. Across the world, there is an upsurge in the number of congenital malformations, especially in mineral and petroleum-producing African countries. The report describes a term male neonate who had features of Noonan syndrome, with the scoring system used in diagnosis and review of existing literature. There is a robust scoring system that has diagnostic value in NS, as used in this report. This report aims to create awareness about the scoring system used in diagnosing NS, especially in resource-limited settings where genetic testing may not be feasible.