Clinical case report of diaphanospondylodysostosis, a rare skeletal dysplasia, in a newborn

Diaphanospondylodysostosis is a rare genetic skeletal disorder caused by biallelic variants in the BMPER gene. The term “diaphanospondylodysostosis” includes ischiospinal dysotosis, which was previously known as a separate entity with milder clinical features. The clinical phenotype of diaphanospondylodysostosis is quite variable and some cases have been lethal in the early postnatal period. The main clinical and radiographic features of the disease are a narrow chest, segmentation defects of the spine, rib anomalies, decreased ossification of the axial skeleton and nephrogenic cysts. Authors represent a clinical case report of a newborn female with diaphanospondylodysostosis who was found to have two novel heterozygous variants in the bone morphogenetic protein endothelial progenitor-binding regulator (BMPER) gene.