Syndrome of Camptodactyly, Arthropathy and Coxa Vara (Cac Syndrome)

Bahabri, Sultan; Sakati, Nadia; Hugosson, Claes; Hainau, Bo; Al-Balla, Suliman R.; Al-Mazyed, A.; Al-Dalaan, Abdullah

doi:10.5144/0256-4947.1994.479

Cited by 7 publications

(11 citation statements)

References 9 publications

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“…Four patients (from families 1 and 4), whose features have been reported previously (7,8), were reevaluated. All probands and siblings were clinically evaluated; radiographic evaluations were performed on clinically affected individuals only.…”

Section: Methodsmentioning

confidence: 99%

“…Subsequently, additional cases of camptodactyly associated with a noninflammatory arthropathy have been reported (2-lo), and an autosomal recessive genetic basis for this condition has been proposed (3). Progressive coxa vara deformity (5,6,8,9) and/or noninflammatory pericardial effusions (3,6,7,lO) have been observed in some patients; consequently, the acronyms CAP (camptodactylyarthropathy-pericarditis) (7) or CAC (camptodactylyarthropathy-coxa vara) (8) have been applied to the phenotype. Progressive coxa vara deformity (5,6,8,9) and/or noninflammatory pericardial effusions (3,6,7,lO) have been observed in some patients; consequently, the acronyms CAP (camptodactylyarthropathy-pericarditis) (7) or CAC (camptodactylyarthropathy-coxa vara) (8) have been applied to the phenotype.…”

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confidence: 99%

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The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

Bahabri

Suwairi

Laxer

et al. 1998

Arthritis & Rheumatism

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The principal features of the CACP syndrome are congenital or early-onset camptodactyly and childhood-onset noninflammatory arthropathy. Coxa vara deformity or other dysplasia associated with progressive hip disease may develop over time. Clinical pericarditis may also occur. A locus responsible for causing CACP syndrome is assigned to a 1.9-cM interval on human chromosome 1q25-31 by homozygosity mapping. This now facilitates the identification of the responsible gene and permits testing for locus homogeneity in other CACP kindreds.

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Section: Methodsmentioning

confidence: 99%

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confidence: 99%

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

Bahabri

Suwairi

Laxer

et al. 1998

Arthritis & Rheumatism

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“…A boolean search of Online Mendelian flexion contractures of one or more inter-phalangeal Inheritance in Man (OMIM) revealed one arthritic disjoints (camptodactyl) [2]. The histopathologic appearease which has been genetically mapped to the same ance of synovial and teno-synovial tissues from patients locus.…”

Section: Discussionmentioning

confidence: 99%

Homology of lubricin and superficial zone protein (SZP): Products of megakaryocyte stimulating factor (MSF) gene expression by human synovial fibroblasts and articular chondrocytes localized to chromosome 1q25

Jay

Tantravahi

Britt

et al. 2001

Journal Orthopaedic Research

231

180

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We have previously identified megdkaryocyte stimulating factor (MSF) gene expression by synovial fibroblasts as the origin of lubricin in the synovial cavity. Lubricin is a mucinous glycoprotein responsible for the boundary lubrication of articular cartilage. MSF has a significant homology to vitronectin and is composed of 12 exons. RNA was purified from human synovial fibroblasts and articular chondrocytes grown in vitro from tissue explants obtained from subjects without degenerative joint disease. RT-PCR was used with multiple complimentary primer pairs spanning the central mucin expressing exon 6 of the MSF gene and individual exons on both the N-and C-terminal sides of exon 6. Exons 2, 4 and 5 appear to be variably expressed by synovial fibroblasts and articular chondrocytes. Lubricating mucin, in the form of MSF, is expressed by both chondrocytes and synovial fibroblasts in vitro.Both lubricin and superficial zone protein (SZP), a related proteoglycan, share a similar primary structure but could differ in posttranslational modifications with 0-linked oligosaccharides which are predominant in lubricin and with limited amounts chondroitin and keratan sulfate found in SZP. Since most of the MSF exons are involved in the expression of lubricating mucin. a strong homology to vitronectin persists. It is therefore appropriate to consider that both SZP and lubricin occupy a new class of biomolecules termed tvihonectins. Screening of a human genome bacterial artificial chromsoine (BAC) library with a cDN A primer pair complimentary for exon 6 identified two clones. Both clones were complimentary for chromosome lq25 by in situ hybridization. This same locus was previously implicated in camptodactyl-arthropathy-pericarditis syndrome (CAP) by genetic mapping. It is hypothesized that CAP, a large joint arthropathy, may be associated with ineffective boundary lubrication provided by synovial fluid. 0

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“…The clinical and genetic findings of all patients were previously described (10,11,12). At the time of enrollment, all patients had bilateral flexion contracture and limited extension of knee joints.…”

Section: Resultsmentioning

confidence: 99%

“…Although, it has been described in different ethnicities, the diagnosis of CACP syndrome in Saudi families is relatively frequent (9,12,13,14). Unfortunately, there is no available effective treatment yet.…”

Section: Introductionmentioning

confidence: 99%

The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

Al‐Mayouf

Almutairi²,

Al‐Ismail³

2017

Mirt

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Objective:Camptodactyly-arthropathy-coxa-vara-pericarditis (CACP) syndrome is an autosomal recessive disorder caused by mutations in PRG4 gene that encodes for proteoglycan 4, the main lubricant for joints and tendon surfaces. It is a non-inflammatory arthropathy, characterized by joint effusions and synovial hypertrophy. So far, there is no effective treatment for this disorder. To evaluate the effectiveness of yttrium-90 radiosynovectomy in arthropathy of patients with CACP syndrome.Methods:Consecutive patients with CACP syndrome were prospectively evaluated at the enrollment and 3 months after the right knee injection with yttrium-90. The outcome variables were patient/parent and physician’s global assessment measured by a 3-point scale, right knee swelling and range of motion on a 3-point scale, in addition to magnetic resonance imaging (MRI) assessment of the right knee for bone, cartilage, fluid, synovial hypertrophy and soft tissue changes.Results:Six (three boys, three girls) patients with a mean age of 12 years and mean follow-up duration of 8.5 years completed a single right knee intra-articular yttrium-90 injection with 5 mCi. The procedure was well tolerated without adverse events apart from mild and transient joint pain in two patients. There was a minimal radioisotope leakage to soft tissue in two patients. During the 3-month follow-up interval, there was no improvement in the outcome variables. Patients and parents did not notice favorable therapeutic effects and global physician assessment was unsatisfactory. There was no difference in knee joint swelling or range of motion. Furthermore, MRI findings were unchanged. However, there was a minimal increase in synovial fluid post injection.Conclusion:Yttrium-90 radiosynovectomy seems to be a safe and well tolerated procedure, however, it did not show a beneficial therapeutic effect in arthropathy of CACP syndrome with the given dosage and interval. Studies including a larger number of patients and probably repeated injections are needed to derive satisfactory results about the effectiveness of yttrium-90 in CACP syndrome patients.

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Syndrome of Camptodactyly, Arthropathy and Coxa Vara (Cac Syndrome)

Cited by 7 publications

References 9 publications

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome: Clinical features and genetic mapping to human chromosome 1

Homology of lubricin and superficial zone protein (SZP): Products of megakaryocyte stimulating factor (MSF) gene expression by human synovial fibroblasts and articular chondrocytes localized to chromosome 1q25

The Efficacy of Yttrium-90 Radiosynovectomy in Patients with Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome

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