Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

Cornelia Hofstaetter; Carolina Courage; Deborah Bartholdi; Saskia Biskup; Luigi Raio

doi:10.1002/ccr3.1368

Prenatal diagnosis of diaphanospondylodysostosis (DSD): a case report

Clin Case Rep. 2018 Jan 17;6(2):420-425. doi: 10.1002/ccr3.1368. eCollection 2018 Feb.

Authors

Cornelia Hofstaetter¹, Carolina Courage^{2

3}, Deborah Bartholdi², Saskia Biskup⁴, Luigi Raio¹

Affiliations

¹ Department of Obstetrics & Gynecology Inselspital University of Bern Switzerland.
² Division of Human Genetics Department of Pediatrics Inselspital University of Bern Switzerland.
³ The Folkhälsan Institute of Genetics University of Helsinki Helsinki Finland.
⁴ Praxis für Humangenetik Paul-Ehrlich-Strasse 22 DE 72076 Tübingen Germany.

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.

Keywords: BMPER gene; diaphanospondylodysostosis; increased nuchal translucency; missing ossification of spine; prenatal diagnosis; ultrasound.

Publication types

Case Reports