Walker-Warburg syndrome

Elena Andreeva, MD; Natalia Bortnovskaya, MD; Olga Savchenko, MD; Natalia Odegova, MD; Nadegda Kvasnikova, MD; Yulia Nikolaeva, MD; Oleg Krivolapov, MD.

Medical Genetic Center, Gomel, Belarus.

Case report

The following images shows some prenatal images of a fetus which turned out to be the Walker-Warburg syndrome. The mother was 21-year-old, G1P0. The first trimester examination at 13 weeks found the NT 1,3 mm, nasal bone length 2,3 mm. At 21st week we found ventriculomegaly of the lateral cerebral ventricles (13 mm), hypoplasia of the cerebellar vermis, posterior fossa cyst (Dandy-Walker complex), and agyria. The findings were confirmed at 30 and 35 weeks and an abnormal fetal profile with hypotelorism were also noted. The neonate was delivered at 39 weeks (3000 g, 50 cm). Postnatally the baby showed myoclonic convulsions, muscular dystrophy and the diagnosis of the Walker-Warburg syndrome was confirmed.

Images 1, 2: 21 weeks. The image 1 shows a transverse scan of the fetal head with the dilation of the lateral cerebral ventricles. The image 2 shows the fetal profile.

21week
21weeks-profile

Images 3, 4: The image 3 shows the dilated lateral cerebral ventricles at 25 weeks with the lack of gyral development. The image 4 shows the sagittal scan of the fetal head at 30 weeks. The corpus callosum is clearly visible with the lack of gyral development in the surroundings. 

25weeks
30weeks

Images 5, 6: 30 weeks; The image 5 shows a transverse scan of the fetal head with the dilation of the lateral cerebral ventricles, posterior fossa cyst, and the hypoplasia of the cerebellar vermis. The image 6 shows the dilated lateral cerebral ventricles with the lack of gyral development.

30weeks2
30weeks3

Images 7, 8: 35 weeks; the image 7 shows a transverse scan of the fetal head with the dilation of the lateral cerebral ventricles. The image 8 shows a transverse scan of the fetal head, aligned with the orbits, showing the hypotelorism.

35weeks
orbits

Image 9: The image shows an abnormal fetal profile at 35 weeks.

profile

 

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