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Article

Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.

BMJ case reports - 1 Jul 2024

Sathiyaseelan Sri Lakshmi, Krishna Kavita, Agarwal Deepti, Oswal Jitendra Shankarlal

Abstract excerpt

Camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is a rare autosomal recessive disease caused by mutation in proteoglycan 4 (PRG4) gene on chromosome 1q25-q31. We faced a dilemma and delay in diagnosis in two sisters. The elder sister had pericardial effusion with constrictive pericarditis, underwent pericardiectomy and received empirical treatment for suspected tuberculosis. After 2 years, she...

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Identifiers

PMID: 38955384
DOI: 10.1136/bcr-2024-260146

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