{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T23:15:07Z","timestamp":1770246907134,"version":"3.49.0"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T00:00:00Z","timestamp":1769558400000},"content-version":"vor","delay-in-days":27,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Camptodactyly\u2013arthropathy\u2013coxa vara\u2013pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by\n                      <jats:italic>PRG4<\/jats:italic>\n                      mutations that impair lubricin production. Resulting noninflammatory hyperplasia produces congenital or early\u2010onset camptodactyly and noninflammatory arthropathy, affecting large joints. Because clinical features overlap with trigger finger and juvenile idiopathic arthritis (JIA), misdiagnosis is common.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      We describe the second genetically confirmed Brazilian case of CACP, involving two siblings. Both showed congenital trigger fingers (later reclassified as camptodactyly) and developed painless, cold swelling of large joints, initially labeled JIA. Laboratory tests showed normal inflammatory markers, and synovial fluid revealed low white cell counts. Imaging demonstrated joint effusion and synovial debris without inflammatory signs. Whole\u2010genome sequencing identified a homozygous c.3756dup mutation in the\n                      <jats:italic>PRG4<\/jats:italic>\n                      gene, introducing a premature stop codon and truncating lubricin.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This report highlights the importance of recognizing CACP syndrome by identifying distinctive clinical, laboratory, and imaging characteristics, notably congenital camptodactyly and noninflammatory joint swelling, to prevent misdiagnosis and guide supportive management.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/crpe\/8908027","type":"journal-article","created":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T06:57:28Z","timestamp":1769669848000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly\u2013Arthropathy\u2013Coxa Vara\u2013Pericarditis Syndrome\u2014A Case\u2010Based Review"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2963-6152","authenticated-orcid":false,"given":"Ana Luiza Garcia","family":"Cunha","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-9998-9628","authenticated-orcid":false,"given":"Isabela Tavares Barretos","family":"Matias","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-5430-0088","authenticated-orcid":false,"given":"Matheus Santos","family":"Fran\u00e7a","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-5581-9598","authenticated-orcid":false,"given":"Joziele de Souza","family":"Lima","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,28]]},"reference":[{"key":"e_1_2_8_1_2","doi-asserted-by":"publisher","DOI":"10.1002\/1529-0131(199804)41:4<730::AID-ART22>3.0.CO;2-Y"},{"key":"e_1_2_8_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/15496"},{"key":"e_1_2_8_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.364"},{"key":"e_1_2_8_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/nejm198307283090407"},{"key":"e_1_2_8_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/art.1780290321"},{"key":"e_1_2_8_6_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2022.981938"},{"key":"e_1_2_8_7_2","doi-asserted-by":"publisher","DOI":"10.4103\/2156-7514.114211"},{"key":"e_1_2_8_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00296-020-04688-0"},{"key":"e_1_2_8_9_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-023-00793-z"},{"key":"e_1_2_8_10_2","doi-asserted-by":"publisher","DOI":"10.1159\/000513111"},{"key":"e_1_2_8_11_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12969-016-0093-5"},{"key":"e_1_2_8_12_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9399"},{"key":"e_1_2_8_13_2","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.185.2.01850522"},{"key":"e_1_2_8_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-12-383834-6.00167-1"},{"key":"e_1_2_8_15_2","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2022-0335"},{"key":"e_1_2_8_16_2","doi-asserted-by":"publisher","DOI":"10.3389\/fmolb.2022.821582"},{"key":"e_1_2_8_17_2","unstructured":"ClinVar Database. National Center for Biotechnology Information (NCBI) 2025 https:\/\/www.ncbi.nlm.nih.gov\/clinvar\/."},{"key":"e_1_2_8_18_2","doi-asserted-by":"publisher","DOI":"10.1177\/17531934211035642"},{"key":"e_1_2_8_19_2","doi-asserted-by":"publisher","DOI":"10.11152\/mu-4452"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8908027","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crpe\/8908027","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crpe\/8908027","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,4]],"date-time":"2026-02-04T10:31:30Z","timestamp":1770201090000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crpe\/8908027"}},"subtitle":[],"editor":[{"given":"Andrea","family":"Scaramuzza","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crpe\/8908027"],"URL":"https:\/\/doi.org\/10.1155\/crpe\/8908027","archive":["Portico"],"relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"value":"2090-6803","type":"print"},{"value":"2090-6811","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-10-04","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-12-03","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-01-28","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8908027"}}