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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?
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 N...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393876/ https://www.ncbi.nlm.nih.gov/pubmed/36017115 http://dx.doi.org/10.1002/ccr3.6256 |
| _version_ | 1784771364645765120 |
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| author | Beltrami, Benedetta Cerasani, Jacopo Consales, Alessandra Villa, Roberta Resta, Nicoletta Loconte, Daria Carmela Boito, Simona Caschera, Luca Bassi, Laura Colombo, Lorenzo Iascone, Maria Bedeschi, Maria Francesca |
| author_facet | Beltrami, Benedetta Cerasani, Jacopo Consales, Alessandra Villa, Roberta Resta, Nicoletta Loconte, Daria Carmela Boito, Simona Caschera, Luca Bassi, Laura Colombo, Lorenzo Iascone, Maria Bedeschi, Maria Francesca |
| author_sort | Beltrami, Benedetta |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-9393876 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | John Wiley and Sons Inc. |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-93938762022-08-24 Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? Beltrami, Benedetta Cerasani, Jacopo Consales, Alessandra Villa, Roberta Resta, Nicoletta Loconte, Daria Carmela Boito, Simona Caschera, Luca Bassi, Laura Colombo, Lorenzo Iascone, Maria Bedeschi, Maria Francesca Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-08-22 /pmc/articles/PMC9393876/ /pubmed/36017115 http://dx.doi.org/10.1002/ccr3.6256 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made. |
| spellingShingle | Case Report Beltrami, Benedetta Cerasani, Jacopo Consales, Alessandra Villa, Roberta Resta, Nicoletta Loconte, Daria Carmela Boito, Simona Caschera, Luca Bassi, Laura Colombo, Lorenzo Iascone, Maria Bedeschi, Maria Francesca Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title | Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title_full | Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title_fullStr | Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title_full_unstemmed | Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title_short | Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? |
| title_sort | prenatal overgrowth and polydramnios: would you think about noonan syndrome? |
| topic | Case Report |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9393876/ https://www.ncbi.nlm.nih.gov/pubmed/36017115 http://dx.doi.org/10.1002/ccr3.6256 |
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