Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome? | Zendy

Beltrami Benedetta | Zendy; Cerasani Jacopo | Zendy; Consales Alessandra | Zendy; Villa Roberta | Zendy; Resta Nicoletta | Zendy; Loconte Daria Carmela | Zendy; Boito Simona | Zendy; Caschera Luca | Zendy; Bassi Laura | Zendy; Colombo Lorenzo | Zendy; Iascone Maria | Zendy; Bedeschi Maria Francesca | Zendy

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Prenatal overgrowth and polydramnios: Would you think about Noonan syndrome?

Author(s) -

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

Publication year - 2022

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.6256

Subject(s) - medicine , megalencephaly , exome sequencing , noonan syndrome , neuroblastoma ras viral oncogene homolog , genetics , pediatrics , gene , mutation , pathology , cancer , colorectal cancer , biology , kras

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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