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Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report
Cornelia Hofstaetter1, Carolina Courage2,3, Deborah Bartholdi2
1Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.
Abstract:
We present a case of diaphanospondylodysostosis (DSD) which showed increased nuchal translucency at 1st trimester and missing ossification of the lower spine, short ribs with posterior gaps, and absent nasal bone in midtrimester. Autopsy revealed additionally bilateral nephroblastomatosis. Molecular genetic analysis showed a new mutation in the BMPER gene.
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