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

Benedetta BeltramiJacopo CerasaniAlessandra ConsalesRoberta VillaNicoletta RestaDaria Carmela LoconteSimona BoitoLuca CascheraLaura BassiLorenzo ColomboMaria IasconeMaria Francesca Bedeschi
Published in: Clinical case reports (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.
Keyphrases
  • pregnant women
  • genome wide
  • case report
  • genome wide identification
  • mental health