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

Benedetta Beltrami,Jacopo Cerasani,Alessandra Consales,Roberta Villa,Nicoletta Resta,Daria Carmela Loconte,Simona Boito,Luca Caschera,Laura Bassi,Lorenzo Colombo,Maria Iascone,Maria Francesca Bedeschi

CLINICAL CASE REPORTS（2022）

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摘要

We report on a child with prenatal findings of increased nuchal translucency, polydramnios, ascites, and overgrowth. At birth, she presented length >97 degrees 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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cardiovascular disorders, genetics, neurology, obstetrics and gynecology, pediatrics and adolescent medicine

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