Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation

Author:

Montero Javier Arredondo1ORCID,Anaut Mónica Bronte2,de Azúa Yerani Ruiz2,Garofalo Lourdes Morales3

Affiliation:

1. Department of Pediatric Surgery, Complejo Hospitalario de Navarra, Pamplona, Spain

2. Department of Pathology, Complejo Hospitalario de Navarra, Pamplona, Spain

3. Department of Genetics, Complejo Hospitalario de Navarra, Pamplona, Spain

Abstract

Diaphanospondylodysostosis is an extremely rare, recessively inherited, perinatal lethal skeletal disorder associated with BMPER gene mutations. Clinically it is characterized by defects in costovertebral ossification, absent ribs, hypertelorism, short nose with depressed nasal bridge, low-set ears, and short neck. At the extraosseous level, the most frequent pathologic finding is nephroblastomatosis with multicystic kidneys. We present the case of a child of non-consanguineous parents who died at 2 months of age in our center. Autopsy showed a marked costovertebral ossification defect, perilobar nephrogenic rests and loss of white matter with periventricular leukomalacia. After genetic study, the diagnosis of diaphanospondylodysostosis was confirmed. A previously undescribed germinal mutation in the BMPER gene (c.576 + 2dupT) was found.

Publisher

SAGE Publications

Subject

General Medicine,Pathology and Forensic Medicine,Pediatrics, Perinatology, and Child Health

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