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2014-08-23-20 Answer to the case of the week #380 © Julien 

Answer to the case of the week #380

October 16, 2014 - October 30, 2014

Emmanuel Julien, MD.



Case report

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.

Following images show a case of severe dwarfism diagnosed at 23 weeks. Our examination revealed:

- macrocephaly with enlarged metopic suture;
- short long bones (less than 3SD);
- facial dysmorphia;
- slightly shorter ribs with enlarged "button-like" appearance of the rib ends;
- borderline size of the lateral cerebral ventricles;
- normal abdominal size;
- polyhydramnios;
- short fingers of the hands;
- platyspondyly;
- snail-like configuration of the hypoplastic iliac bones.

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.

We do not have molecular diagnosis, but according to the prenatal and X-ray findings our presumed diagnosis is Schneckenbecken dysplasia.

Here are the prenatal and postmortem X-ray images showing the findings mentioned above.

Images 1-4: Macrocrania with borderline size of the lateral cerebral ventricles; finger-like enlargement of the rib ends.

Images 5-8: wide metopic suture.

Images 9-16: Short long bones and snail-like appearance of the iliac bones (yellow arrow)

Image 17, 18: Snail-like appearance of the iliac bone.

Images 19-28: facial dysmorphia.


Images 29-32: Shrort ribs

Images 33-40: X-ray images showing platyspondyly, snail-like appearance of hypoplastic iliac bones and macrocrania.





A few slides from the "Skeletal dysplasia: The Findings" lecture may be helpful in understanding of the findings:


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