Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
| Autor: | 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 |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: | |
| Zdroj: | Clinical Case Reports, Vol 10, Iss 8, Pp n/a-n/a (2022) |
| Druh dokumentu: | article |
| ISSN: | 2050-0904 |
| DOI: | 10.1002/ccr3.6256 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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