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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
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Journal Article
Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
2022
Overview
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. This report expands the phenotypic spectrum of Noonan syndrome, because it is the first Italian case carrying a pathogenic variant in the NRAS gene associated with megalencephaly and overgrowth, without any anomaly in the PI3K/AKT/mTOR pathway.
