Prenatal overgrowth and polydramnios: would you think about Noonan syndrome?
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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.
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- europepmc
- last seen: 2026-05-19T01:45:01.086888+00:00
- unpaywall
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