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

doi:10.1002/ccr3.6256

Clinical Case Reports

2022

DOI: 10.1002/ccr3.6256

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

Benedetta Beltrami

Jacopo Cerasani

Alessandra Consales

et al.

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.

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2024

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Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

Tangshewinsirikul,

Wattanasirichaigoon,

Tim-Aroon

et al. 2024

JCM

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Noonan syndro me is a rare autosomal dominant congenital abnormality associated with a gene defect located on the short arm of chromosome 12. It is characterized by dysmorphic facies, webbed neck, short stature, lymphatic obstruction, cardiac anomalies, and intellectual disability. Prenatal diagnosis of Noonan syndrome is rare because there are no pathognomonic sonographic signs. Studies on the prenatal sonographic features of Noonan syndrome have been reported in very limited numbers. This case series of severe fetal Noonan syndrome, together with a literature review, was conducted to establish prenatal sonographic features highly suggestive of Noonan syndrome to facilitate early detection by clinicians. This study reveals that Noonan syndrome has a relatively specific pattern, which facilitates prenatal molecular genetic diagnosis. Increased nuchal translucency (NT) in the late first trimester and fluid collection in the early second trimester could be warning signs for follow-up, prompting further investigation to detect late-onset features and leading to molecular genetic confirmation. Most structural abnormalities appear in the second trimester, with progressive changes noted throughout gestation. This review better characterizes the sonographic features of fetal Noonan syndrome based on a larger sample size, illustrating a wider spectrum of prenatal phenotypes, including lymphatic drainage disorders, cardiac abnormalities, polyhydramnios, and absent ductus venosus.

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Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

Tangshewinsirikul,

Wattanasirichaigoon,

Tim-Aroon

et al. 2024

JCM

View full text Add to dashboard Cite

show abstract

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

Cited by 1 publication

References 16 publications

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

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