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.


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