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

31 July 2020: Articles

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

Rare disease

Ieva Malniece ^A* , Adele Grasmane ^B , Inna Inashkina ^B , Janis Stavusis ^B , Madara Kreile ^A , Edvins Miklasevics ^A , Linda Gailite ^D

DOI: 10.12659/AJCR.922468

Am J Case Rep 2020; 21:e922468

Table 1. USS findings in the first fetus.

	12+3 weeks	16th week	22nd week	29th week	33rd week	35th week
NT	12.0 mm	5.8 mm	4.6 mm
PI	1.8
Cystic hygroma	+	11×8 mm16×8 mm	6×3.7 mm5.4×3.6 mm4.9×5.3 mm
Right kidney pyelectasia		AP=5.6 mm	AP=16.0 mm	AP=26.0 mm	AP=33.0 mm
Polyhydramnios				AFI=27.1 cm	AFI=32.9 cm	AFI=32.9 cm
Additional features	CRL=52.4 mm					Hydrothorax (chylothorax)
Additional features	CRL=52.4 mm					Subcutaneous generalized edema
USS – ultrasound scan; NT – nuchal translucency; PI – ductus venosus pulsatility; AP – anterior-posterior; AFI – amniotic fluid index; CRL – crown-rump length.