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 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.
Faivre
L
L
Département de Génétique, Hôpital des Enfants Malades, Paris, France.
Prieur
A M
AM
Le Merrer
M
M
Hayem
F
F
Penet
C
C
Woo
P
P
Hofer
M
M
Dagoneau
N
N
Sermet
I
I
Munnich
A
A
Cormier-Daire
V
V
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006615:Hip; D006801:Humans; D007592:Joint Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology*; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D010024:Osteoporosis / Q000235:genetics; D010493:Pericarditis / Q000235:genetics* / Q000473:pathology; D010641:Phenotype; D011859:Radiography; D013577:Syndrome