نتایج جستجو برای: ehlers danlos syndrome

تعداد نتایج: 622312  

2014
Derrick C Wan

Ehlers-Danlos syndrome is a heritable connective tissue disorder with an estimated prevalence of one in 10,000 to 25,000 persons [1]. Using clinical phenotype, biochemical and molecular defects, as well as inheritance patterns, a total of 6 subtypes have been described [2]. Although its hallmark findings include severe joint laxity and hyperextensible skin, this condition is known to affect a v...

Journal: :Cardiogenetics 2021

A spontaneous coronary artery dissection as the sole presenting feature of vascular Ehlers-Danlos syndrome is an uncommon finding. We present a 33-year-old woman with sudden onset chest pain caused by dissection. Genetic testing revealed underlying cause. Specifically, we show value genetic testing, which in some patients may be only way establishing diagnosis.

Journal: :Epilepsia 1999
D E Jacome

PURPOSE Ehlers-Danlos syndrome (EDS) is a complex hereditary connective tissue disorder infrequently reported in association with epilepsy. Seven patients with ages ranging from 28 to 70 years with EDS and epilepsy are described. METHODS Case review of clinical and diagnostic data. RESULTS Two patients had occipital horn syndrome (EDS type IX) and partial seizures of probable supplementary ...

2015
Julia Cohen-Lévy Nicolas Cohen J. Cohen-Lévy N. Cohen

Article received: 03-08-2014. Accepted for publication: 25-08-2014. Address for correspondence: Julia Cohen-Lévy, Nicolas Cohen – 255, Rue Saint-Honoré – 75001 Paris, France E-mail: [email protected] 1 A young adult male was referred for orthodontic recurrence with unesthetic secondary migrations. He was also treated for severely disabling joint pain in a type-III Ehlers-Danlos syndrome. ...

Journal: :Pain 2006
Joan M Stoler Anne Louise Oaklander

Rare patients are left with chronic pain, vasodysregulation, and other symptoms that define complex regional pain syndrome (CRPS), after limb traumas. The predisposing factors are unknown. Genetic factors undoubtedly contribute, but have not yet been identified. We report four CRPS patients also diagnosed with the classical or hypermobility forms of Ehlers Danlos syndrome (EDS), inherited disor...

Journal: :Acta orthopaedica Belgica 2013
Katerina Cermak Bruno Baillon Dimitri Tsepelidis Michel Vancabeke

A 46-year-old female patient with Ehlers-Danlos Syndrome had undergone fusion of her right knee 25 years before presentation. This markedly affected her quality of life. She underwent a two-stage conversion to a constrained rotating-hinge total knee arthroplasty. She regained a satisfying range of motion and she has a painfree, mobile and stable knee at 42 months follow-up. Conversion of knee f...

Journal: :British medical journal 1968
P Beighton

Death from arterial bleeding or gastrointestinal perforation has previously been reported in more than 15 patients with the Ehlers-Danlos syndrome. On a basis of 100 personally examined patients and a review of published accounts, these events seem particularly likely to occur in two distinct and recognizable forms (the gravis and the ecchymotic forms) of the syndrome.

Journal: :Orphanet Journal of Rare Diseases 2007
Dominique P Germain

Ehlers-Danlos syndrome type IV, the vascular type of Ehlers-Danlos syndromes (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed ...

2003
WH Luk EPY Fung K Wang JCS Chan

Arterial dissection is uncommon in young adults and there are usually underlying causes. This report describes 2 young patients with vascular complications after trivial injury who were diagnosed to have Ehlers-Danlos syndrome. One patient died while the other remains in a stable condition. Early clinical recognition of this syndrome is necessary so as to prevent mortality and reduce morbidity.

Journal: :Journal of medical genetics 1987
P Tsipouras F Ramirez

Osteogenesis imperfecta, Ehlers-Danlos syndrome, and Marfan syndrome form a group of genetic disorders of connective tissue. These disorders exhibit remarkable clinical heterogeneity which reflects their underlying biochemical and molecular differences. Defects in collagen types I and III have been found in all three syndromes.

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