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Individuals with Noonan syndrome (NS) have facial dysmorphology, which may include hypertelorism, downward slanting eyes, epicanthal folds, and low-set and posteriorly rotated ears. A variety of cardiac defects may be present, including pulmonary stenosis, patent ductus arteriosus, hypertrophic cardiomyopathy, and coarctation of the aorta. Other features include short stature, pterygium colli, short, webbed neck, deafness, motor delay, and bleeding diathesis. Lymphedema may be present prenatally. Noonan syndrome shares some clinical features with cardio-facio-cutaneous (CFC) and Costello syndrome. However, Noonan syndrome patients typically have milder cognitive deficits and fewer ectodermal problems. Patients with RIT1 mutations may also have skin and hair anomalies, such as curly hair, hyperelastic skin, and hyperkeratosis. Prenatal and perinatal abnormalities observed in individuals with RIT1 mutations include polyhydramnios, nuchal translucency, placental abruption, pleural effusion, and chylothorax (Aoki et al., 2013; Gos et al. 2014; Chen et al. 2014; Bertola et al. 2014).
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Adekunle, et al (1999) Increased first trimester nuchal translucency: pregnancy and infant outcomes after routine screening for Down’s syndrome in an unselected antenatal population. Br J Radiol 72:457-60
Tartaglia, et al (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29:465-8
Trauffer, et al (1994) The natural history of euploid pregnancies with first-trimester cystic hygromas. Am J Obstet Gynecol 170:1279-84
Benacerraf, et al (1989) The prenatal sonographic features of Noonan syndrome. J Ultrasound Med 8:59-63
Ferguson et al. (2006) PTPN11 gene analysis in fetuses with abnormal ultrasound findings: The GeneDx experience. Poster presentation at the Cardiofaciocutaneous Syndrome & Noonan Syndrome International Symposium, Nov 17-19, 2006, Potomac, MD
Hiippala, et al (2001) Fetal nuchal translucency and normal chromosomes: a long-term follow-up study. Ultrasound Obstet Gynecol 18:18-22
Reynders, et al (1997) First trimester isolated fetal nuchal lucency: Significance and outcome. J Ultrasound Med 16:101-105
Souka, et al (2001) Outcome of pregnancy in chromosomally normal fetuses with increased nuchal translucency in the first trimester. Ultrasound Obstet Gynecol 18:9-17
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