Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenita l or early onset camptodactyly and noninflammatory arthropathy with synovia l hyperplasia, Progressive coxa vara deformity and/or noninflammatory peric ardial or pleural effusions have been observed in some patients, Recently, the disease gene has been assigned to human chromosome region 1q25-q31, and truncating mutations have been identified in the megakaryocyte stimulating factor gene, Studying 12 patients from 8 unrelated families, we emphasized hip and spine involvement, particularly in the course of the disease as sh own in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease.