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2012-07-10-16 Case of the week # 331 ©Elena Andreeva

Case of the week # 331

November 8th, 2012 - November 22nd, 2012

Elena Andreeva MD., Natalia Odegova, MD., Faatima Lagkueva, MD., Ludmila Zhuchenko, MD.
Moscow regions Research Institute of Obstetrics and Gynecology, Medical-Genetics Department, Moscow, Russia.

Case report:

The following images show a fetus which turned out to be the Walker-Warburg syndrome. The mother was 33-year-old, G2P1. The first trimester examination at 13 weeks found the NT of 1.7 mm, nasal bone length of 2.8 mm. At 21 weeks, we found ventriculomegaly of the lateral cerebral ventricles and arachnoidal space, hypoplasia of the cerebellum, rombencephalonsynapsis, and agyria, hypoplastic corpus callosum.

The pregnancy was terminated and the diagnosis of the Walker-Warburg syndrome was confirmed. 

Figure 1-5:

Figure 6, 7: Postmorterm brain of the baby:

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