Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
Benedetta Beltrami, Jacopo Cerasani, Alessandra Consales and 9 more
Clinical Case Reports · 2022
doi:10.1002/ccr3.6256 (opens in a new tab)
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Abstract
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.
Abstract licence: CC BY-NC
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