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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.
Afiliação
  • Beltrami B; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy.
  • Cerasani J; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Consales A; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Villa R; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy.
  • Resta N; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari "Aldo Moro" Bari Italy.
  • Loconte DC; Department of Biomedical Sciences and Human Oncology (DIMO), Medical Genetics University of Bari "Aldo Moro" Bari Italy.
  • Boito S; Fetal Medicine and Surgery Service Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Caschera L; Neuroradiology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Bassi L; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Colombo L; Neonatal Intensive Care Unit (NICU), Department of Clinical Science and Community Health Università degli Studi di Milano and Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy.
  • Iascone M; Laboratory of Medical Genetics Ospedale Papa Giovanni XXIII Bergamo Italy.
  • Bedeschi MF; Medical Genetics Unit Fondazione IRCCS Ca'Granda Ospedale Maggiore Policlinico Milan Italy.
Clin Case Rep ; 10(8): e6256, 2022 Aug.
Article em En | MEDLINE | ID: mdl-36017115
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.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Clin Case Rep Ano de publicação: 2022 Tipo de documento: Article