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

January 17, 2018

Hofstaetter C1, Courage C2,3, Bartholdi D2, Biskup S4, Raio L1.

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.

  1. Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.
  2. Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
  3. Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, Oklahoma, USA.
  4. Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, Lübeck, Germany.
  5. MVZ Labor Krone, Filialpraxis für Humangenetik, Bielefeld, Germany.
  6. Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, Göttingen, Germany.
  7. Cologne Center for Genomics (CCG), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  8. Core Facility Genomics, Berlin Institute of Health at Charité – Universitätsmedizin Berlin, Berlin, Germany.
  9. Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, Germany.
  10. Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
  11. Institut für Humangenetik, Westfälische Wilhelms-Universität Münster, Münster, Germany.
  12. CeGaT GmbH, Center for Genomics and Transcriptomics, Tübingen, Germany.
  13. Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Amsterdam Neuroscience, Amsterdam UMC, Amsterdam, Netherlands.
  14. Institute of Diagnostic and Interventional Neuroradiology, Hannover Medical School, Hannover, Germany.
  15. Center for Molecular Medicine Cologne (CMMC), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
  16. Institute of Human Genetics, Otto-von-Guericke University Magdeburg, Magdeburg, Germany.
  17. Research Group Structure and Function of Molecular Machines, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.
  18. Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.
  19. Cluster of Excellence “Multiscale Bioimaging: From Molecular Machines to Networks of Excitable cells” (MBExC), University of Göttingen, Göttingen, Germany.
  20. DZHK (German Centre for Cardiovascular Research), Partner Site Göttingen, Göttingen, Germany.