Abstract

We report a case of a newborn baby born by caesarean section of a 29-year-old mother, whose pregnancy was monitored without a morphological ultrasound.the evolution of the pregnancy was without incident. The malformative clinical assessment revealed a facial dysmorphism characteristic of Noonan syndrome as well as other clinical malformations described by other authors in patients with this syndrome. The neonatal period was marked by an installation of a respiratory distress motivating its hospitalization in neonatology for an adapted care. A radiological assessment has revealed cardiac malformations that are characteristic of this pathology. Molecular analysis confirmed the diagnosis by the presence of a pathogenic mutation in exon 13 of the PTPN11 gene.

Key words: Noonan syndrome, facial dysmorphia, mutations PTPN11