hrp0095p1-429 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Progressive pseudorheumatoid dysplasia as a cause of short stature

Purushothaman Preetha , F Gevers Evelien

Introduction: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic bone disorder characterised by the progressive degeneration of articular cartilage leading to pain, stiffness, joint enlargement and short stature. PPRD occurs due to a mutation in cellular communication network factor 6 (CCN6)/Wnt1-inducible signalling protein 3 (WISP3) gene, encoding a 354 amino acid signalling factor involved in BMP/WNT signalling and mitochondri...