{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,5]],"date-time":"2026-03-05T00:09:21Z","timestamp":1772669361137,"version":"3.50.1"},"reference-count":39,"publisher":"Georg Thieme Verlag KG","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Klin Padiatr"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>BackgroundCamptodactyly\u2013arthropathy\u2013coxa vara\u2013pericarditis syndrome is a\n                    rare autosomal recessive disorder with camptodactyly, non-inflammatory\n                    arthropathy, coxa vara, and pericarditis. Symptoms usually begin in early\n                    childhood with swelling of interphalangeal joints, wrists, and knees.\n                    Pericarditis is rare. It is caused by proteoglycan 4 gene mutations and often\n                    misdiagnosed as juvenile idiopathic arthritis due to overlapping features.<\/jats:p>\n                  <jats:p>Case presentationA 4-year-old boy presented with 6 months of knee and\n                    wrist swelling and nocturnal pain. His parents were first-degree cousins, and a\n                    maternal uncle had rheumatoid arthritis. He had prior hip surgeries at 2.5\n                    years. Examination showed swelling in knees, ankles, and wrists, and 30\u00b0 wrist\n                    extension limitation. No systemic symptoms were noted. The erythrocyte\n                    sedimentation rate, C-reactive protein level, and antinuclear antibody test\n                    results were normal. Magnetic resonance imaging showed effusion and synovial\n                    thickening. Initially diagnosed with polyarticular juvenile idiopathic\n                    arthritis, he received methotrexate and etanercept. Due to progressive gait\n                    issues and radiographic coxa vara, diagnosis was revised. Genetic testing\n                    confirmed homozygous proteoglycan 4 (c.915delC) mutation.<\/jats:p>\n                  <jats:p>ConclusionsThis case underscores an atypical\n                    camptodactyly\u2013arthropathy\u2013coxa vara\u2013pericarditis presentation without\n                    camptodactyly. Persistent non-inflammatory arthropathy despite immunosuppression\n                    should raise suspicion for camptodactyly\u2013arthropathy\u2013coxa vara\u2013pericarditis.<\/jats:p>","DOI":"10.1055\/a-2814-3127","type":"journal-article","created":{"date-parts":[[2026,3,4]],"date-time":"2026-03-04T23:50:26Z","timestamp":1772668226000},"source":"Crossref","is-referenced-by-count":0,"title":["Camptodactyly\u2013Arthropathy\u2013Coxa Vara\u2013Pericarditis Syndrome without\n                    Camptodactyly: A Pediatric Case and Review of the Literature"],"prefix":"10.1055","author":[{"given":"Firat","family":"Gundogmus","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology, Karadeniz Technical University\n                    Faculty of Medicine, Trabzon, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Halil","family":"Kazanasmaz","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology, Karadeniz Technical University\n                    Faculty of Medicine, Trabzon, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ender Can","family":"Eroglu","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology, Karadeniz Technical University\n                    Faculty of Medicine, Trabzon, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mukaddes","family":"Kalyoncu","sequence":"additional","affiliation":[{"name":"Pediatric Rheumatology, Karadeniz Technical University\n                    Faculty of Medicine, Trabzon, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2026,3,4]]},"reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"24","DOI":"10.4103\/2156-7514.114211","article-title":"Camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Important\n                    differential for juvenile idiopathic arthritis","volume":"3","author":"R M 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