Ehlers-Danlos syndrome

References

Key articles

De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1-11. Abstract

Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.Full text  Abstract

Hakim AJ, Sahota A. Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue. Clin Dermatol. 2006 Nov-Dec;24(6):521-33. Abstract

Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012;2012:751768.Full text  Abstract

Reference articles

1. Ghali N, Sobey G, Burrows N. Ehlers-Danlos syndromes. BMJ. 2019 Sep 18;366:l4966.Full text  Abstract

2. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1-11. Abstract

3. Tinkle BT, Bird HA, Grahame R, et al. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A. 2009 Nov;149A(11):2368-70. Abstract

4. Castori M, Tinkle B, Levy H, et al. A framework for the classification of joint hypermobility and related conditions. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):148-57.Full text  Abstract

5. Malfait F, Francomano C, Byers P, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26.Full text  Abstract

6. Brady AF, Demirdas S, Fournel-Gigleux S, et al. The Ehlers-Danlos syndromes, rare types. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115.Full text  Abstract

7. Hakim A, Grahame R. Joint hypermobility. Best Pract Res Clin Rheumatol. 2003 Dec;17(6):989-1004. Abstract

8. Klemp P, Williams SM, Stansfield SA. Articular mobility in Maori and European New Zealanders. Rheumatology (Oxford). 2002 May;41(5):554-7.Full text  Abstract

9. Demmler JC, Atkinson MD, Reinhold EJ, et al. Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case-control comparison. BMJ Open. 2019 Nov 4;9(11):e031365.Full text  Abstract

10. Bravo JF, Wolff C. Clinical study of hereditary disorders of connective tissues in a Chilean population: joint hypermobility syndrome and vascular Ehlers-Danlos syndrome. Arthritis Rheum. 2006 Feb;54(2):515-23.Full text  Abstract

11. Clark CJ, Simmonds JV. An exploration of the prevalence of hypermobility and joint hypermobility syndrome in Omani women attending a hospital physiotherapy service. Musculoskeletal Care. 2011 Mar;9(1):1-10. Abstract

12. Hakim AJ, Sahota A. Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue. Clin Dermatol. 2006 Nov-Dec;24(6):521-33. Abstract

13. Castori M. Ehlers-danlos syndrome, hypermobility type: an underdiagnosed hereditary connective tissue disorder with mucocutaneous, articular, and systemic manifestations. ISRN Dermatol. 2012;2012:751768.Full text  Abstract

14. Hakim AJ, Cherkas LF, Grahame R, et al. The genetic epidemiology of joint hypermobility: a population study of female twins. Arthritis Rheum. 2004 Aug;50(8):2640-4.Full text  Abstract

15. Sobey G. Ehlers-Danlos syndrome - a commonly misunderstood group of conditions. Clin Med. 2014 Aug;14(4):432-6.Full text  Abstract

16. Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973 Sep;32(5):413-8.Full text  Abstract

17. Hakim AJ, Grahame R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain. Int J Clin Pract. 2003 Apr;57(3):163-6. Abstract

18. Hakim AJ, Grahame R, Norris P, et al. Local anaesthetic failure in joint hypermobility syndrome. J R Soc Med. 2005 Feb;98(2):84-5.Full text  Abstract

19. Smith TO, Jerman E, Easton V, et al. Do people with benign joint hypermobility syndrome (BJHS) have reduced joint proprioception? A systematic review and meta-analysis. Rheumatol Int. 2013 Nov;33(11):2709-16. Abstract

20. Clayton HA, Cressman EK, Henriques DYProprioceptive sensitivity in Ehlers-Danlos syndrome patients. Exp Brain Res. 2013 Oct;230(3):311-21. Abstract

21. Rombaut L, Malfait F, Cools A, et al. Musculoskeletal complaints, physical activity and health-related quality of life among patients with the Ehlers-Danlos syndrome hypermobility type. Disabil Rehabil. 2010;32(16):1339-45. Abstract

22. Sacheti A, Szemere J, Bernstein B, et al. Chronic pain is a manifestation of the Ehlers-Danlos syndrome. J Pain Symptom Manage. 1997 Aug;14(2):88-93. Abstract

23. Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85. Abstract

24. Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39.Full text  Abstract

25. Hakim A, O'Callaghan C, De Wandele I, et al. Cardiovascular autonomic dysfunction in Ehlers-Danlos syndrome-hypermobile type. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):168-74.Full text  Abstract

26. Rowe PC, Barron DF, Calkins H, et al. Orthostatic intolerance and chronic fatigue syndrome associated with Ehlers-Danlos syndrome. J Pediatr. 1999 Oct;135(4):494-9. Abstract

27. Mathias CJ, Low DA, Iodice V, et al. Postural tachycardia syndrome - current experience and concepts. Nat Rev Neurol. 2011 Dec 6;8(1):22-34. Abstract

28. Zarate-Lopez N, Farmer AD, Grahame R, et al. Unexplained gastrointestinal symptoms and joint hypermobility: is connective tissue the missing link? Neurogastroenterol Motil. 2010 Mar;22(3):252-e78. Abstract

29. Mohammed SD, Lunniss PJ, Zarate N, et al. Joint hypermobility and rectal evacuatory dysfunction: an etiological link in abnormal connective tissue? Neurogastroenterol Motil. 2010 Oct;22(10):1085-e283. Abstract

30. Hugon-Rodin J, Lebègue G, Becourt S, et al. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet J Rare Dis. 2016 Sep 13;11(1):124.Full text  Abstract

31. Wenstrup RJ, Meyer RA, Lyle JS, et al. Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. 2002 May-Jun;4(3):112-7. Abstract

32. Sobey G. Ehlers-Danlos syndrome: how to diagnose and when to perform genetic tests. Arch Dis Child. 2015 Jan;100(1):57-61.Full text  Abstract

33. Wolfe F, Clauw DJ, Fitzcharles MA, et al. 2016 Revisions to the 2010/2011 fibromyalgia diagnostic criteria. Semin Arthritis Rheum. 2016 Dec;46(3):319-329.Full text  Abstract

34. Aalberts JJ, van den Berg MP, Bergman JE, et al. The many faces of aggressive aortic pathology: Loeys-Dietz syndrome. Neth Heart J. 2008 Sep;16(9):299-304.Full text  Abstract

35. Chopra P, Tinkle B, Hamonet C, et al. Pain management in the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):212-9.Full text  Abstract

36. Scheper MC, Juul-Kristensen B, Rombaut L, et al. Disability in adolescents and adults diagnosed with hypermobility-related disorders: a meta-analysis. Arch Phys Med Rehabil. 2016 Dec;97(12):2174-87. Abstract

37. Keer R, Grahame R. Hypermobility syndrome: recognition and management for physiotherapists, 1st ed. Edinburgh, UK: Butterworth Heinemann; 2003.

38. European Medicines Agency. CMDh confirms recommendations on restricting use of domperidone-containing medicines. Apr 2014 [internet publication].Full text

39. Dong W, Goost H, Lin XB, et al. Injection therapies for lateral epicondylalgia: a systematic review and Bayesian network meta-analysis. Br J Sports Med. 2016 Aug;50(15):900-8. Abstract

40. Sartorio F, Garzonio F, Vercelli S, et al. Conservative treatment of tendinopathies of upper limbs in occupational health: a literature review [in Italian]. Med Lav. 2016 Mar 24;107(2):112-28. Abstract

41. Burling F. Comparison of tetradecyl sulfate versus polidocanol injections for stabilisation of joints that regularly dislocate in an Ehlers-Danlos population. BMJ Open Sport Exerc Med. 2019;5(1):e000481.Full text  Abstract

42. Pepin M, Schwarze U, Superti-Furga A, et al. Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med. 2000;342:673-80.Full text  Abstract

43. Byers PH, Belmont J, Black J, et al. Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-7.Full text  Abstract

44. Burcharth J, Rosenberg J. Gastrointestinal surgery and related complications in patients with Ehlers-Danlos syndrome: a systematic review. Dig Surg. 2012;29(4):349-57.Full text  Abstract

45. Lind J, Wallenburg HC. Pregnancy and the Ehlers-Danlos syndrome: a retrospective study in a Dutch population. Acta Obstet Gynecol Scand. 2002 Apr;81(4):293-300. Abstract

46. Grahame R, Keer R. Pregnancy and the pelvis. In: Hakim A, Keer R, Grahame R (eds.). Hypermobility, fibromyalgia & chronic pain, 1st ed. Oxford, UK: Elsevier; 2010.

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