Open AccessPrenatal 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 , pathology , mutation , cancer , kras , colorectal cancer , biology
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.