Hypermobility and the heritable disorders of connective tissue

Hypermobility Syndrome: Diagnosis and Management for Physiotherapists

Volumn , Issue , 2003, Pages 15-25

  Grahame, Rodney ^a  

^a NONE

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[No Author keywords available]

Indexed keywords

EID: 84904225969     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1016/B978-0-7506-5390-9.50006-X     Document Type: Chapter

References (15)

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2. Beighton P., De Paepe A., Danks G, et al. International nosology of heritable disorders of connective tissue, Berlin 1986. American Journal of Human Genetics 1988, 29:581-594.
3. Burrows N.P., Nicholls A.C., Yates J.R., et al. Genetic linkage to the collagen alpha 1 (V) gene ( COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypes. Clinical and Experimental Dermatology 1997, 22:174-176.
4. Byers P.H. Osteogenesis imperfecta. Connective Tissue and its Heritable Disorders. 1993, 317-350. Wiley-Liss. P.L.S.B. Royce (Ed.).
5. De Paepe A., Devereux R.B., Dietz H.C., et al. Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics 1996, 62:417-426.
6. De Paepe A., Nuytinck L., Hausser I, et al. Mutations in the COL5A1 gene are causal in the Ehlers-Danlos syndromes I and II. American Journal of Human Genetics 1997, 60:547-554.
7. Gillinov A.M., Zehr K.J., Redmond J.M., et al. Cardiac operations in children with Marfan's syndrome: indications and results. Annals of Thoracic Surgery 1997, 64:1140-1144.
8. Grahame R. Joint hypermobility and genetic collagen disorders: are they related?. Archives of Disease in Childhood 1999, 80:188-191.
9. Grahame R. Heritable disorders of connective tissue. Bailliére's Best Practice and Research in Clinical Rheumatology. Uncommon Non-inflammatory Osteoarticular Disorders. 2000, Vol 14:345-361. Bailliére Tindall, No. 2. G. Balint, T. Bardin (Eds.).
10. Grahame R. Pain, distress and joint hyperlaxity. Joint Bone Spine 2000, 67:157-163. a.
11. Grahame R., Edwards J.C., Pitcher D, et al. A clinical and echocardiographic study of patients with the hypermobility syndrome. Annals of the Rheumatic Diseases 1981, 40:541-546.
12. Grahame R., Bird H.A., Child A, et al. The British Society Special Interest Group on Heritable Disorders of Connective Tissue Criteria for the Benign Joint Hypermobility Syndrome. The Revised (Brighton 1998) Criteria for the Diagnosis of the BJHS. Journal of Rheumatology 2000, 27:1777-1779.
13. Mingke D., Dresler C., Pethig K, et al. Surgical treatment of Marfan patients with aneurysms and dissection of the proximal aorta. Journal of Cardiovascular Surgery 1998, 39:65-74.
14. OMIM classification (Online Mendelian Inheritance in Man). National Center for Biotechnology Information, USA (website ) . http://www.ncbi.nlm.nih.gov/Omim/searchomim.html.
15. Pepin M., Schwarze U., Superit-Furga A., Byers P. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. New England Journal of Medicine 2000, 342:673-680.