Diaphanospondylodysostosis: Full Case Report with Novel Pathogenic BMPER Mutation.

doi:10.1177/10935266211056812

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Article

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 - 1 Jan 2000

Arredondo Montero Javier, Bronte Anaut Mónica, Ruiz de Azúa Yerani, Morales Garofalo Lourdes

Abstract excerpt

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...

Topics

Carrier Proteins
Child
Craniofacial Abnormalities
Dysostoses
Female
Humans
Mutation
Pregnancy
Ribs
Spine

Source

Open in PubMed

Identifiers

PMID: 34877902
DOI: 10.1177/10935266211056812

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