Noonan syndrome

Fabrice Cuillier, MD*; S. Belec, MD**; J. Chouchani, MD**; J.L. Alessandri, MD***; D. Ramful***

* Department of Gynecology, Félix Guyon Hospital, 97400 Saint-Denis, Reunion Island, France;
** Department of Gynecology, Hospital center, 96400 Mamoudzou, Mayotte island, France;
*** Department of Neonatology, Félix Guyon Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

A 26-year-old woman (G1P1), with negative medical history, was referred to our antenatal unit at 28 weeks of her gestation due to a polyhydramnios. Her previous ultrasonographic scans at 13 and 22 weeks were reported to be normal, but nuchal translucency was not measured and the triple test was not done.

Our ultrasonographic examination found a female fetus with polyhydramnios and a few other findings:

    • Hypertrophic cardiomyopathy with ventricular septal defect and hyperechoic atrioventricular valves (rigidly moving, but¬†without insufficiency);
    • Dilated umbilical vein (but without agenesis of the ductus venosus);
    • Multiple hepatic calcifications.

An amniocentesis was done revealing normal karyotype (46, XX). Serological tests (TORCH, Parvovirus, and Chikungunya) were negative and so was the Kleihauer-Betke test. Our suspected diagnoses were a metabolic or a genetic anomaly (Noonan syndrome?).

At 33 weeks a cardiac insufficiency occurred and the pregnancy was terminated. The newborn was delivered at 33 weeks and 2 days and the prenatal findings were confirmed. Additionally an interruption of the vena cava inferior and an abnormal hepatic circulation were diagnosed. Genetic examination confirmed the diagnosis of Noonan syndrome. The baby died 60 days after delivery due to the cardiac insufficiency.

Images 1, 2: 3D images showing the fetal face (Image 1) and female gender of the fetus (Image 2). Note the characteristic features of the fetal face that can be often seen in the Noonan syndrome: downslanting palpebral fissures, low nasal bridge (epicanthal folds are slightly indicated), prominent, protruding upper lip.


Images 3, 4: Image 3 shows fetal profile with normal nasal bone length, slight prenasal edema, and moderate retrognathia. The image 4 shows sagittal scan of the fetal abdomen and thorax. Dilated umbilical vein can be seen.


Images 5, 6, 7: Images represent gray scale (Images 5, 6) and color Doppler (Image 7) transverse scans of the fetal thorax at the level of the four-chamber view. Ventricular septal defect can be seen.


Images 8, 9, 10, 11, and 12: The images represent several scans of the fetal heart demonstrating hypertrophic cardiomyopathy.


Images 13, 14, 15: The images show color Doppler scans of the outflow tracts of the heart. No significant anomaly of the tracts was found.


Images 16, 17, 18: The images show transverse scans of the fetal abdomen with several hepatic calcifications (arrows).


Video 1: The video shows transverse scan of the fetal abdomen with hepatic calcifications.

Discussion Board

Start a discussion about this article
Add bookmark Bookmarked