Article

Prenatal overgrowth and polydramnios: would you think about Noonan syndrome?

2022-03-21

Abstract excerpt

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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Literature Corpus work: 0c6e4f36-0120-5fda-9274-6c78b64fc00d
DOI: 10.22541/au.164787794.45708355/v1

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