Abstract
We report on a child with prenatal findings of increased nuchal
translucency, polydramnios, ascites and overgrowth. At birth she
presented length >97° centile, minor facial anomalies,
megalencephaly and Wolff-Parkinson-White syndrome. Whole Exome
Sequencing showed a pathogenic variant in the NRAS gene, but no
mutations were found in PI3K/AKT/mTOR pathway genes.