Results 1 to 10 of about 12,868 (160)

Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome [PDF]

open access: yesBMC Ophthalmology, 2012
Background Inferior conjunctivochalasis is common, but is rarely severe enough to require conjunctival excision. This report describes a patient with severe conjunctivochalasis who was subsequently diagnosed with Ehlers Danlos Syndrome, Classic Type ...
Whitaker John K   +3 more
doaj   +5 more sources

The Ehlers–Danlos syndromes [PDF]

open access: yesNature Reviews Disease Primers, 2020
The Ehlers–Danlos syndromes (EDS) are a heterogeneous group of hereditary disorders of connective tissue, with common features including joint hypermobility, soft and hyperextensible skin, abnormal wound healing and easy bruising. Fourteen different types of EDS are recognized, of which the molecular cause is known for 13 types.
Malfait, Fransiska   +5 more
openaire   +4 more sources

The GoodHope Exercise and Rehabilitation (GEAR) Program for People With Ehlers-Danlos Syndromes and Generalized Hypermobility Spectrum Disorders

open access: yesFrontiers in Rehabilitation Sciences, 2021
Introduction: The Ehlers-Danlos Syndromes (EDS) and Generalized Hypermobility Spectrum Disorders (G-HSD) comprise a heterogeneous group of genetic disorders of abnormal synthesis and/or maturation of collagen and other matricellular proteins.
Nimish Mittal   +24 more
doaj   +1 more source

Case report: Two individuals with AEBP1-related classical-like EDS: Further clinical characterisation and description of novel AEBP1 variants

open access: yesFrontiers in Genetics, 2023
Introduction:AEBP1-related classical-like EDS (clEDS type 2) is a rare type of Ehlers–Danlos syndrome (EDS) that was first reported in 2016. There are overlapping clinical features with TNXB-related classical-like EDS (or clEDS type 1), including skin ...
Chloe Angwin   +5 more
doaj   +1 more source

The GoodHope Ehlers Danlos Syndrome Clinic: development and implementation of the first interdisciplinary program for multi-system issues in connective tissue disorders at the Toronto General Hospital

open access: yesOrphanet Journal of Rare Diseases, 2021
Ehlers-Danlos Syndrome (EDS) are a heterogeneous group of genetic connective tissue disorders, and typically manifests as weak joints that subluxate/dislocate, stretchy and/or fragile skin, organ/systems dysfunction, and significant widespread pain ...
Nimish Mittal   +25 more
doaj   +1 more source

Exercise and Rehabilitation in People With Ehlers-Danlos Syndrome: A Systematic Review

open access: yesArchives of Rehabilitation Research and Clinical Translation, 2022
Objective: To conduct a systematic review examining the effect of exercise and rehabilitation in people with Ehlers-Danlos syndrome (EDS). Data Sources: The following databases were systematically searched: MEDLINE, MEDLINE In-Process/ePubs, Embase ...
Stephanie Buryk-Iggers, MSc   +12 more
doaj   +1 more source

Twin pregnancy with untyped Ehlers-Danlos syndrome requiring prompt genetic testing: A case report

open access: yesCase Reports in Women's Health, 2022
Ehlers-Danlos syndrome is a rare genetic disorder that presents with a variety of pathologies depending on the disease type. Among them, vascular Ehlers-Danlos syndrome requires extremely careful management as there have been many reports of fatal ...
Shiori Ogawa   +10 more
doaj   +1 more source

Diagnosis of a Von Willebrand type 2N disease in a patient with a connective tissue disorder close to Ehlers-Danlos syndrome [PDF]

open access: yesBatna Journal of Medical Sciences, 2022
Ehlers Danlos syndrome is often associated with an increased bleeding tendency, this syndrome can be associated with hemostasis disorders which will worsen the patient's bleeding tendency.
Driss Benlaldj   +3 more
doaj   +1 more source

The association between muscle strength and activity limitations in patients with the hypermobility type of Ehlers–Danlos syndrome : the impact of proprioception [PDF]

open access: yes, 2016
Purpose: The patients diagnosed with Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT) are characterized by pain, proprioceptive inacuity, muscle weakness, potentially leading to activity limitations.
Calders, Patrick   +8 more
core   +7 more sources

Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers–Danlos syndrome

open access: yesFrontiers in Genetics, 2023
Introduction: Vascular Ehlers–Danlos syndrome (vEDS) is an autosomal dominant inherited connective tissue condition, characterized by generalized tissue fragility with an increased risk of arterial dissection and hollow organ rupture. In women with vEDS,
Chloe Angwin   +5 more
doaj   +1 more source

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