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Article

Delayed-onset progressive pseudorheumatoid dysplasia with secondary synovial chondromatosis.

BMJ case reports - 18 May 2020

Shahi Pratyush, Sehgal Apoorv, Sudan Aarushi, Sehgal Shreya

Abstract excerpt

A 25-year-old man presented to us with progressive multiple joint pain, enlargement, and restricted movements. X-rays showed platyspondyly, multiple epiphyseal widening, synovial chondromatosis, and decreased bone stock and cortical thickness. Genetic testing showed biallelic pathogenic variants in CCN6 which confirmed the diagnosis of progressive pseudorheumatoid dysplasia. Supportive care, physical therapy,...

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Identifiers

PMID: 32430353
DOI: 10.1136/bcr-2020-234461
PMCID: PMC7239527

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