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Page 1
Hypermobile Ehlers-Danlos syndrome (a.k.a. Ehlers-Danlos syndrome Type III and Ehlers-Danlos syndrome hypermobility type): Clinical description and natural history.
Tinkle B, Castori M, Berglund B, Cohen H, Grahame R, Kazkaz H, Levy H. Tinkle B, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):48-69. doi: 10.1002/ajmg.c.31538. Epub 2017 Feb 1. Am J Med Genet C Semin Med Genet. 2017. PMID: 28145611 Review.
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. ...Two undifferentiated syndromes have been used to describe these manifestations-joint hypermobility syndrome and hEDS. Both are …
The hypermobile type of Ehlers-Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissu …
Ehlers-Danlos syndrome, classical type.
Bowen JM, Sobey GJ, Burrows NP, Colombi M, Lavallee ME, Malfait F, Francomano CA. Bowen JM, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):27-39. doi: 10.1002/ajmg.c.31548. Epub 2017 Feb 13. Am J Med Genet C Semin Med Genet. 2017. PMID: 28192633 Free article. Review.
The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history of each subtype of EDS, to inform management and genetic counselling, and to identify potential areas of research. ...
The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the na …
Hypermobile Ehlers-Danlos Syndrome.
Hakim A. Hakim A. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2004 Oct 22 [updated 2024 Feb 22]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 20301456 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility, joint instability, pain, soft and hyperextensible skin with atrophic scars and easy bruising, dental crowding, abdominal hernias, pelvic o …
CLINICAL CHARACTERISTICS: Hypermobile Ehlers-Danlos syndrome (hEDS) is characterized by generalized joint hypermobility …
Ehlers-Danlos syndrome--a historical review.
Parapia LA, Jackson C. Parapia LA, et al. Br J Haematol. 2008 Apr;141(1):32-5. doi: 10.1111/j.1365-2141.2008.06994.x. Br J Haematol. 2008. PMID: 18324963
Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. ...In 1998, Beighton published the classification of …
Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal co …
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome.
Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N. Byers PH, et al. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Am J Med Genet C Semin Med Genet. 2017. PMID: 28306228 Review.
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection and rupture, bowel rupture, and rupture of the gravid uterus. ...Initial diagnosis depends on the recognitions of clinical features, includi …
Vascular Ehlers Danlos syndrome (vEDS) is an uncommon genetic disorders characterized by arterial aneurysm, dissection …
Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV).
Pepin MG, Schwarze U, Rice KM, Liu M, Leistritz D, Byers PH. Pepin MG, et al. Genet Med. 2014 Dec;16(12):881-8. doi: 10.1038/gim.2014.72. Epub 2014 Jun 12. Genet Med. 2014. PMID: 24922459 Free article.
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with heterozygous COL3A1 mutations. ...Median survival was 51 years but was influenced by gender (lower in men) and by the type of mutation. CONCLU …
PURPOSE: We sought to characterize the natural history of vascular Ehlers-Danlos syndrome in individuals with he …
Loeys-Dietz Syndrome.
Velchev JD, Van Laer L, Luyckx I, Dietz H, Loeys B. Velchev JD, et al. Adv Exp Med Biol. 2021;1348:251-264. doi: 10.1007/978-3-030-80614-9_11. Adv Exp Med Biol. 2021. PMID: 34807423
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is sign …
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most ty …
Thoracic Aortic Aneurysm: A Clinical Review.
Senser EM, Misra S, Henkin S. Senser EM, et al. Cardiol Clin. 2021 Nov;39(4):505-515. doi: 10.1016/j.ccl.2021.06.003. Cardiol Clin. 2021. PMID: 34686263 Review.
Aortic diameter is the best predictor of the natural history and risk of complications. Treating hypertension and smoking cessation can slow their growth. ...
Aortic diameter is the best predictor of the natural history and risk of complications. Treating hypertension and smoking cessation c …
Ehlers-Danlos syndrome.
Grahame R. Grahame R. S Afr Med J. 2016 May 25;106(6 Suppl 1):S45-6. doi: 10.7196/SAMJ.2016.v106i6.10991. S Afr Med J. 2016. PMID: 27245524
The Ehlers-Danlos syndromes (EDSs) were originally described by Ehlers in Denmark and Danlos in Paris in 1898 and 1908, respectively. ...
The Ehlers-Danlos syndromes (EDSs) were originally described by Ehlers in Denmark and Danlos in Paris in 1898 an …
Ehlers-Danlos syndrome.
Gawthrop F, Mould R, Sperritt A, Neale F. Gawthrop F, et al. BMJ. 2007 Sep 1;335(7617):448-50. doi: 10.1136/bmj.39237.484468.80. BMJ. 2007. PMID: 17762038 Free PMC article. Review.
These three case histories illustrate the many problems facing patients with Ehlers-Danlos syndrome in its various forms...
These three case histories illustrate the many problems facing patients with Ehlers-Danlos syndrome in its vario …
556 results