The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

Ieva Malniece; Adele Grasmane; Inna Inashkina; Janis Stavusis; Madara Kreile; Edvins Miklasevics; Linda Gailite

doi:10.12659/AJCR.922468

31 July 2020 : Case report Latvia

The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

Rare disease

Ieva Malniece^1ABDE*, Adele Grasmane^23BDEF, Inna Inashkina^4BD, Janis Stavusis^4BCE, Madara Kreile^13AEF, Edvins Miklasevics^5AG, Linda Gailite^3DEG

DOI: 10.12659/AJCR.922468

Am J Case Rep 2020; 21:e922468

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Table 2. USS findings in the second fetus.

	13+6 weeks	14+6 weeks
NT	17.2 mm
PI	1.5
Cystic hygroma	+	+
Additional features	CRL=52.4 mm
	Subcutaneous edema	Subcutaneous edema
	Hydrothorax/chylothorax	Hydrothorax/chylothorax (up to 5.1 mm)
	Echogenic bowel	Initial ascites
		Hepatomegaly (20×17×16 mm)
NT – nuchal translucency; PI – ductus venosus pulsatility; CRL – crown–rump length.

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The Fetal Phenotype of Noonan Syndrome Caused by Severe, Cancer-Related PTPN11 Variants

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