Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report.

Authors

Hofstaetter C1, Courage C2,3, Bartholdi D2, Biskup S4, Raio L1.
  1. Department of Obstetrics & GynecologyInselspitalUniversity of BernSwitzerland.
  2. Division of Human GeneticsDepartment of PediatricsInselspitalUniversity of BernSwitzerland.
  3. The Folkhälsan Institute of GeneticsUniversity of HelsinkiHelsinkiFinland.
  4. Praxis für HumangenetikPaul-Ehrlich-Strasse 22DE 72076TübingenGermany.

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.