Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.

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.

Citation

Javier Arredondo Montero, Mónica Bronte Anaut, Yerani Ruiz de Azúa, Lourdes Morales Garofalo. Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 2022 May-Jun;25(3):321-326

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PMID: 34877902

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