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

Abstract

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is an autosomal recessive condition characterized by the association of congenital or early onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. Progressive coxa vara deformity and/or noninflammatory pericardial 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 shown in a 58-year-old patient. Despite clinical variability, linkage studies support genetic homogeneity of the disease.

• Authors: L Faivre, A M Prieur, M Le Merrer, F Hayem, C Penet, P Woo, M Hofer, N Dagoneau, I Sermet, A Munnich, V Cormier-Daire
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 95 Issue 3 Pg. 233-6 (Nov 27 2000) ISSN: 0148-7299 [Print] United States
• PMID: 11102929 (Publication Type: Journal Article)

Topics

• Adolescent
• Child
• Child, Preschool
• Chromosomes, Human, Pair 1
• Female
• Genetic Heterogeneity
• Genetic Linkage
• Hip
• Humans
• Joint Diseases (diagnostic imaging, genetics, pathology)
• Male
• Microsatellite Repeats
• Middle Aged
• Osteoporosis (genetics)
• Pericarditis (genetics, pathology)
• Phenotype
• Radiography
• Syndrome