TY - JOUR AU - Fathalla, Basil M. AU - Elgabaly, Elham Ahmed AU - Tayoun, Ahmad Abou PY - 2020 DA - 2020/09/07 TI - Coexistence of a novel WISP3 pathogenic variant and an MEFV mutation in an Arabic family with progressive pseudorheumatoid dysplasia mimicking polyarticular juvenile idiopathic arthritis JO - Pediatric Rheumatology SP - 69 VL - 18 IS - 1 AB - A spectrum of rare noninflammatory disorders may present with arthropathy that arises from bony dysplasia, a thickened synovium, and noninflammatory effusion, leading to a constellation of clinical features that mimics chronic polyarticular juvenile idiopathic arthritis (JIA). We report a unique Arabic family harboring a novel pathogenic variant in the WISP3 gene and presenting with progressive pseudorheumatoid dysplasia (PPRD), a rare noninflammatory arthropathy mimicking polyarticular JIA. SN - 1546-0096 UR - https://doi.org/10.1186/s12969-020-00462-5 DO - 10.1186/s12969-020-00462-5 ID - Fathalla2020 ER -