Ehlers-Danlos Syndrome
Clinical and molecular characterization of 40 patients with classic Ehlers–Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations
... Classic Ehlers–Danlos syndrome (cEDS) (MIM #130000) is a rare autosomal dominant disorder with a prevalence of 1/ 20,000 and is characterized by skin hyperextensibility, wid- ened atrophic scars, and ...
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<p>Trigeminal Autonomic Cephalalgias Manifested As The Only Initial Symptom Of Ehlers–Danlos Syndrome Type IV</p>
... Ehlers – Danlos syndrome (EDS) type IV, the vascular type, is an autosomal dominant disorder caused by mutations in COL3A1. 1–3 It is a rare connective tissue disease and the prevalence for all EDS ...
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Physical and mechanical therapies for lower limb symptoms in children with Hypermobility Spectrum Disorder and Hypermobile Ehlers-Danlos Syndrome: a systematic review
... Results: Two RCTs including a total of 86 participants were eligible for inclusion. Trials evaluated differences between generalised versus targeted physiotherapy programs and between performing knee extension exercises ...
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Neurological manifestations of Ehlers-Danlos syndrome(s): A review.
... “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with ...
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Vascular type Ehlers Danlos syndrome caused by a hitherto unknown genetic mutation: a case report
... Ehlers-Danlos syndrome (EDS) is used to refer to a group of genetic disorders characterized by connective tissue fragility caused by abnormalities affecting collagen - a mo- lecular constituent of ...
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Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study
... Background: Hypermobile Ehlers-Danlos syndrome (hEDS), is probably the most common disease among heritable connective tissue disorders. It affects women more than men and causes symptoms in multiple ...
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Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation
... the Ehlers-Danlos syndrome (EDS type VIA) is a rare autosomal recessive connective tissue disorder, which in the first years of life mainly affects the musculoskeletal ...
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Self reported quality of life, anxiety and depression in individuals with Ehlers Danlos syndrome (EDS): a questionnaire study
... Ehlers-Danlos syndrome (EDS) is an inherited, lifelong and potentially disabling connective tissue disorder. The prominent features of this disorder are skin laxity, joint hypermobility, chronic ...
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Underlying Ehlers-Danlos syndrome discovered during neuro-ophthalmic evaluation of concussion patients: a case series
... postconcussion syndrome and visited the W-TBI clinic in February ...postconcussion syndrome, and possible occipi- tal neuralgia. Ehlers Danlos syndrome was suspected at this appointment ...
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Recommendations for anesthesia and perioperative management in patients with Ehlers-Danlos syndrome(s)
... Ehlers-Danlos Syndrome (EDS, Orphanumber: ORPHA98249) is an umbrella term for a growing number of heritable connective tissue disorders, mainly featuring joint hyper- mobility and instability, skin ...
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Vascular type Ehlers-Danlos syndrome is associated with platelet dysfunction and low vitamin D serum concentration
... Background: The vascular type represents a very rare, yet the clinically most fatal entity of Ehlers-Danlos syndrome (EDS). Patients are often admitted due to arterial bleedings and the friable ...
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Intracranial Venous Sinus Stenting Improves Headaches and Cognitive Dysfunction Associated with Ehlers-Danlos Syndrome Type III
... Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, tissue fragility, and skin extensibility ...this syndrome ...
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A patient with Ehlers Danlos syndrome type VI is a compound heterozygote for mutations in the lysyl hydroxylase gene
... In the present study, we have isolated and sequenced the complementary DNAs of two mutant alleles for lysyl hydroxylase (LH) in fibroblasts from one patient (AT750) with Ehlers- Danlos syndrome type ...
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Case – Penile fracture in a patient with Ehlers Danlos syndrome
... type Ehlers-Danlos syndrome presented to urology clinic 24 hours after he was vigorously masturbating, felt a “pop,” and experienced immediate penile ...
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Ehlers-Danlos syndrome type IV
... 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 ...
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A Review on Ehlers-Danlos Syndrome
... Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues primarily skin, joints, and blood vessel ...have Ehlers-Danlos syndrome usually ...
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Colonoscopic perforation leading to a diagnosis of Ehlers Danlos syndrome type IV: a case report and review of the literature
... Case presentation: A 33-year-old Caucasian man presented to our hospital with an acute abdomen following a colonoscopy five days earlier as part of hereditary non-polyposis colorectal cancer screening. His medical ...
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The Ehlers Danlos syndrome: on beyond collagens
... The Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous connective tissue disorder affecting as many as 1 in 5,000 individuals ...
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Systematic data querying of large pediatric biorepository identifies novel Ehlers Danlos Syndrome variant
... “Ehlers Danlos, EDS”) keyword searches identified a list of 119 patients, all of which included access to lab and diagnostic reports as described ...
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Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome
... At present, 7 patients from 6 families with molecularly confirmed spEDS due to β4Galt7-deficiency (spEDS- B4GALT7) have been reported and a total of 7 missense and 2 frameshift mutations are recognized [3, 5–8]. All or ...
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