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

January 17, 2018

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


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.