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Benedetta Beltrami
Benedetta Beltrami

Public Documents 1
Prenatal overgrowth and polydramnios: would you think about Noonan syndrome?
Benedetta Beltrami
Jacopo Cerasani

Benedetta Beltrami

and 11 more

March 21, 2022
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.

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