ArticleCase reports in pediatrics2026
From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome-A Case-Based Review.
Article in Case reports in pediatrics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- From Misdiagnosis to Genetic Confirmation: A Brazilian Familial Report of Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome-A Case-Based Review.Case reports in pediatrics · 2026Article
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4 authors.
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Abstract
Background: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is a rare autosomal recessive disorder caused by Case Presentation: 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-genome sequencing identified a homozygous c.3756dup mutation in the Conclusion: 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.
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