Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Clin Case Rep
; 10(8): e6256, 2022 Aug.
Article
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| MEDLINE
| ID: mdl-36017115
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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MEDLINE
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Clin Case Rep
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2022
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Article