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Volumn 43, Issue 2, 2013, Pages 292-296

Camptodactyly-arthropathy-coxavara-pericarditis syndrome in Saudi Arabia: Clinical and molecular genetic findings in 22 patients

Author keywords

Childhood arthropathy; Childhood rheumatic diseases; Contracture; Coxa vara; Familial arthropathy; Juvenile arthritis; Pediatrics; Saudi Arabia

Indexed keywords

25 HYDROXYVITAMIN D; ALKALINE PHOSPHATASE; C REACTIVE PROTEIN; ETANERCEPT; LUBRICIN; METHOTREXATE; NONSTEROID ANTIINFLAMMATORY AGENT; PREDNISONE; PROTEOGLYCAN; UNCLASSIFIED DRUG;

EID: 84886084616     PISSN: 00490172     EISSN: 1532866X     Source Type: Journal    
DOI: 10.1016/j.semarthrit.2012.11.004     Document Type: Article
Times cited : (25)

References (22)
  • 2
    • 33846662945 scopus 로고    scopus 로고
    • Familial arthropathy in Saudi Arabian children: demographic, clinical, and biochemical features
    • Al-Mayouf S.M. Familial arthropathy in Saudi Arabian children: demographic, clinical, and biochemical features. Semin Arthritis Rheum 2007, 36:256-261.
    • (2007) Semin Arthritis Rheum , vol.36 , pp. 256-261
    • Al-Mayouf, S.M.1
  • 3
    • 0022656722 scopus 로고
    • A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara
    • Bulutlar G., Yazici H., Ozdogan H., Schreuder I. A familial syndrome of pericarditis, arthritis, camptodactyly, and coxa vara. Arthritis Rheum 1986, 29:436-438.
    • (1986) Arthritis Rheum , vol.29 , pp. 436-438
    • Bulutlar, G.1    Yazici, H.2    Ozdogan, H.3    Schreuder, I.4
  • 4
    • 0022638435 scopus 로고
    • The camptodactyly arthropathypericarditis syndrome: case report and literature review
    • Laxer R., Cameron B., Chaisson D., Smith C., Stein L. The camptodactyly arthropathypericarditis syndrome: case report and literature review. Arthritis Rheum 1986, 29:439-444.
    • (1986) Arthritis Rheum , vol.29 , pp. 439-444
    • Laxer, R.1    Cameron, B.2    Chaisson, D.3    Smith, C.4    Stein, L.5
  • 5
    • 25644449686 scopus 로고    scopus 로고
    • Camptodactyly-arthropathy-coxavara-pericarditis syndrome versus juvenile idiopathic arthropathy
    • Offiah A., Woo P., Prieur A., Hasson N., Hall C. Camptodactyly-arthropathy-coxavara-pericarditis syndrome versus juvenile idiopathic arthropathy. Am J Roentgenol 2005, 185:522-529.
    • (2005) Am J Roentgenol , vol.185 , pp. 522-529
    • Offiah, A.1    Woo, P.2    Prieur, A.3    Hasson, N.4    Hall, C.5
  • 8
    • 79955720507 scopus 로고    scopus 로고
    • A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathycoxa-vara-pericarditissyndrome in a consanguineous Pakistani family
    • Basit S., Iqbal Z., Umicevic-Mirkov M., Kamran Ul-Hassan Naqvi S., Coenen M., Ansar M., et al. A novel deletion mutation in proteoglycan-4 underlies camptodactyly-arthropathycoxa-vara-pericarditissyndrome in a consanguineous Pakistani family. Arch Med Res 2011, 42:110-114.
    • (2011) Arch Med Res , vol.42 , pp. 110-114
    • Basit, S.1    Iqbal, Z.2    Umicevic-Mirkov, M.3    Kamran Ul-Hassan Naqvi, S.4    Coenen, M.5    Ansar, M.6
  • 9
    • 12144269009 scopus 로고    scopus 로고
    • Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome: a case report
    • Choi B., Lim Y., Joo K., Paik S., Kim N., Lee J., et al. Camptodactyly, arthropathy, coxa vara, pericarditis (CACP) syndrome: a case report. J Korean Med Sci 2004, 19:907-910.
    • (2004) J Korean Med Sci , vol.19 , pp. 907-910
    • Choi, B.1    Lim, Y.2    Joo, K.3    Paik, S.4    Kim, N.5    Lee, J.6
  • 10
    • 1342332097 scopus 로고    scopus 로고
    • The Arabic version of childhood health assessment questionnaire modified for Arabic children
    • Madi S., Al-Mayouf S.M., Gainger C., Bahabri S. The Arabic version of childhood health assessment questionnaire modified for Arabic children. Saudi Med J 2004, 25:83-87.
    • (2004) Saudi Med J , vol.25 , pp. 83-87
    • Madi, S.1    Al-Mayouf, S.M.2    Gainger, C.3    Bahabri, S.4
  • 11
    • 0031947369 scopus 로고    scopus 로고
    • The camptodactyly-arthropathy-coxavara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1
    • Bahabri S., Suwairi W., Laxer R., Polinkovsky A., Dalaan A., Warman M. The camptodactyly-arthropathy-coxavara-pericarditis syndrome: clinical features and genetic mapping to human chromosome 1. Arthritis Rheum 1998, 41:730-735.
    • (1998) Arthritis Rheum , vol.41 , pp. 730-735
    • Bahabri, S.1    Suwairi, W.2    Laxer, R.3    Polinkovsky, A.4    Dalaan, A.5    Warman, M.6
  • 12
    • 33745939347 scopus 로고    scopus 로고
    • Novel PRG4 mutations underlie CACP in Saudi families
    • Alazami A., Al-Mayouf S., Wyngaard C., Meyer B. Novel PRG4 mutations underlie CACP in Saudi families. Hum Mutat 2006, 27:213-217.
    • (2006) Hum Mutat , vol.27 , pp. 213-217
    • Alazami, A.1    Al-Mayouf, S.2    Wyngaard, C.3    Meyer, B.4
  • 13
    • 0032699840 scopus 로고    scopus 로고
    • CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxavara pericarditis syndrome
    • Marcelino J., Carpten J., Suwairi W., Gutierrez O., Schwartz S., Robbins C., et al. CACP, encoding a secreted proteoglycan, is mutated in camptodactyly-arthropathy-coxavara pericarditis syndrome. Nat Genet 1999, 23:319-322.
    • (1999) Nat Genet , vol.23 , pp. 319-322
    • Marcelino, J.1    Carpten, J.2    Suwairi, W.3    Gutierrez, O.4    Schwartz, S.5    Robbins, C.6
  • 14
    • 24744467785 scopus 로고    scopus 로고
    • Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing
    • Rhee D., Marcelino J., Al-Mayouf S., Schelling D., Bartels C., Cui Y., et al. Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processing. J Biol Chem 2005, 280:31325-31332.
    • (2005) J Biol Chem , vol.280 , pp. 31325-31332
    • Rhee, D.1    Marcelino, J.2    Al-Mayouf, S.3    Schelling, D.4    Bartels, C.5    Cui, Y.6
  • 15
    • 84863762595 scopus 로고    scopus 로고
    • A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxavara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract
    • Akawi N., Ali B., Al-Gazali L. A novel mutation in PRG4 gene underlying camptodactyly-arthropathy-coxavara-pericarditis syndrome with the possible expansion of the phenotype to include congenital cataract. Birth Defects Res A Clin Mol Teratol 2012, 10.1002/bdra.2303.
    • (2012) Birth Defects Res A Clin Mol Teratol
    • Akawi, N.1    Ali, B.2    Al-Gazali, L.3
  • 16
    • 0020533763 scopus 로고
    • The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly
    • Ochi T., Iwase R., Okabe N., Fink C.W., Ono K. The pathology of the involved tendons in patients with familial arthropathy and congenital camptodactyly. Arthritis Rheum 1983, 26:896-900.
    • (1983) Arthritis Rheum , vol.26 , pp. 896-900
    • Ochi, T.1    Iwase, R.2    Okabe, N.3    Fink, C.W.4    Ono, K.5
  • 18
  • 19
    • 0028576438 scopus 로고
    • Radiological features in congenital camptodactyly, familial arthropathy and coxa vara syndrome
    • Hugosson C., Bahabri S., McDonald P., al-Dalaan A., al-Mazyed A. Radiological features in congenital camptodactyly, familial arthropathy and coxa vara syndrome. Pediatr Radiol 1994, 24:523-526.
    • (1994) Pediatr Radiol , vol.24 , pp. 523-526
    • Hugosson, C.1    Bahabri, S.2    McDonald, P.3    al-Dalaan, A.4    al-Mazyed, A.5
  • 20
    • 17644399802 scopus 로고    scopus 로고
    • Synovial pathology in camptodactyly-arthropathy-coxavara-pericarditis syndrome
    • Shayan K., Ho M., Edwards V., Laxer R., Thorner P. Synovial pathology in camptodactyly-arthropathy-coxavara-pericarditis syndrome. Pediatr Dev Pathol 2005, 8:26-33.
    • (2005) Pediatr Dev Pathol , vol.8 , pp. 26-33
    • Shayan, K.1    Ho, M.2    Edwards, V.3    Laxer, R.4    Thorner, P.5
  • 21
    • 68149131131 scopus 로고    scopus 로고
    • Secondary osteoporosis
    • Ahmed S., Elmantaser M. Secondary osteoporosis. Endocr Dev 2009, 16:170-190.
    • (2009) Endocr Dev , vol.16 , pp. 170-190
    • Ahmed, S.1    Elmantaser, M.2
  • 22
    • 58749105144 scopus 로고    scopus 로고
    • Management of osteoporosis in children
    • Shaw N. Management of osteoporosis in children. Eur J Endocrinol 2008, 159(Suppl. 1):S33-39.
    • (2008) Eur J Endocrinol , vol.159 , Issue.SUPPL. 1
    • Shaw, N.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.