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KMID : 0191120040190060907
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Journal of Korean Medical Science
2004 Volume.19 No. 6 p.907 ~ p.910
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Camptodactyly,Arthropathy,Coxa vara,Pericarditis (CACP)Syndrome :A Case Report
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Choi BR
Lim YH/Joo KB/Paik SS/Kim NS/Lee JK/Yoo DH
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Abstract
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The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is char-acterized by congenital or early-onset camptodactyly, childhood-onset noninflam-matory arthropathy associated with synovial hyperplasia. Some patients have pro-gressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1.9-cM interval on human chromosome 1q25-31. We describe a 10-yr-old boy who has typical features of CACP without familial association.
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