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Prenatal overgrowth and polydramnios: would you think about Noonan syndrome?
  • +9
  • Benedetta Beltrami,
  • Jacopo Cerasani,
  • Alessandra Consales,
  • Roberta Villa,
  • Nicoletta Resta,
  • Daria Loconte,
  • Simona Boito,
  • Luca Caschera,
  • Laura Bassi,
  • Lorenzo Colombo,
  • Maria Iascone,
  • Maria Bedeschi
Benedetta Beltrami
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Dipartimento Donna-Bambino-Neonato

Corresponding Author:[email protected]

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Jacopo Cerasani
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Alessandra Consales
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Roberta Villa
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Dipartimento Donna-Bambino-Neonato
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Nicoletta Resta
Università degli Studi di Bari Aldo Moro
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Daria Loconte
Università degli Studi di Bari Aldo Moro
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Simona Boito
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Luca Caschera
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Laura Bassi
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Lorenzo Colombo
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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Maria Iascone
ASST Papa Giovanni XXIII
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Maria Bedeschi
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
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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.
10 Mar 2022Submitted to Clinical Case Reports
11 Mar 2022Submission Checks Completed
11 Mar 2022Assigned to Editor
21 Mar 2022Reviewer(s) Assigned
30 Apr 2022Review(s) Completed, Editorial Evaluation Pending
04 May 2022Editorial Decision: Revise Minor
15 Jun 20221st Revision Received
20 Jun 2022Submission Checks Completed
20 Jun 2022Assigned to Editor
20 Jun 2022Review(s) Completed, Editorial Evaluation Pending
21 Jul 2022Editorial Decision: Accept
Aug 2022Published in Clinical Case Reports volume 10 issue 8. 10.1002/ccr3.6256