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2014-08-23-20 Case of the week #380 © Julien 

Case of the week #380

October 16, 2014 - October 30, 2014

Emmanuel Julien, MD.



Case report

Following images show a case of severe dwarfism diagnosed at 23 weeks. The fetus was examined at 23, 26, and 29 weeks. At 31st week intrauterine death of the fetus was found due to strangulation of the umbilical cord. Postmortem X-ray images confirmed our findings. Here are the prenatal and postmortem X-ray images showing the findings.

We would also like to thank to Dr. Sheila Unger, an expert on skeletal dysplasias, for her critical remarks regarding some cases of skeletal dysplasias published on website. Dr. Sheila Unger is a member of Division of Molecular Pediatrics in the Department of Pediatrics of the University Hospital in Lausanne, Switzerland. She is co-author of the last “Nosology and Classification of Genetic Skeletal Disorders: 2010 Revision”. We really appreciate her checking and correcting some of the cases we see.
We took into account her disagreement with the diagnosis of the Schneckenbecken dysplasia used as the COW 380. As the diagnosis was established on clinical - radiology ground and not molecular we will follow her suggestion and withdraw it and case 380 will not be included to our competition.

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When you have tried to solve the case on your own (no team work here please !) you can find the Answer here.

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