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Articles » Syndromes » Beckwith-Wiedemann syndrome

2013-08-01-22 Beckwith–Wiedemann syndrome, omphalocele © Cuillier

Beckwith–Wiedemann syndrome, omphalocele

Fabrice Cuillier, MD

Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Réunion, France.

Case report

A 28-year-old woman (G2P1) was referred to our antenatal unit at 17 weeks of gestation for a second opinion ultrasound due to an omphalocele. There was no known family history of congenital disease and the patient did take any medications. The nuchal translucency was 1 mm (CRL 60 mm) and the triple test was normal.
Our ultrasound found an omphalocele measuring 24 x 22 mm, and a small perimembranous ventricular septal defect of the heart. At 30 weeks macrosomia and macroglossia were observed. The kidneys were of normal appearance.

Amniocentesis was also performed, but revealed normal karyotype 46,XX.

The patient had delivered spontaneously at 32 weeks and the diagnosis of omphalocele and macroglossia were confirmed. Genetic testing revealed Beckwith-Wiedemann syndrome of the neonate.

Images 1, 2, 3, and 4: the images show omphalocele of the fetus.



Images 5, 6:  The image 5 shows small perimembranous ventricular septal defect at 17 weeks of gestation. 
Image 6 shows macroglossia (arrow) of the fetus at 30 weeks of gestation.


Images 7, 8: The images show normal kidneys at 30 weeks of gestation.


Images 9, 10: The images show normal fetal ears.


Image 11: The biometry of the fetus demonstrating macrosomia at 31 weeks.

Image 12, 13: Postnatal images showing omphalocele and macroglossia.


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