نتایج جستجو برای: ehlers danlos

تعداد نتایج: 3983  

Journal: :Journal of the American Academy of Physician Assistants 2020

Journal: :American Journal of Occupational Therapy 2023

Abstract Date Presented 04/22/2023 Individuals with hypermobile Ehlers-Danlos syndrome (hEDS) commonly experience sleep disturbances that can affect occupational performance and participation. The purpose of this study was to investigate common in individuals hEDS OT interventions utilized facilitate sleep. Primary Author Speaker: Susan S. McDonald Additional Authors Speakers: David Levine Cont...

Journal: :Postgraduate medical journal 1995
A K Chattopadhyay R H Kandler B Sharrack

We describe two patients with associations of hereditary neuropathies and heritable skeletal disorders not previously reported. The first patient had Marfan's syndrome and hereditary motor and sensory neuropathy Type 1. The second patient had Ehlers-Danlos syndrome, Klippel-Feil syndrome and tomaculous neuropathy.

Journal: :Archives of disease in childhood 1985
I D Young R H Lindenbaum E M Thompson M E Pembrey

Amniotic bands are described in two children with Ehlers-Danlos syndrome type IV and in one with severe osteogenesis imperfecta. Since the basic defect in both of these disorders rests in collagen, which constitutes the main component of the load bearing amnion, it is proposed that these cases provide further insight into the pathogenesis of amniotic bands.

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: :Neurology India 1983
M E Pretorius I J Butler

A 22-year-old woman with type I Ehlers-Danlos syndrome had severe radicular pain in the lower back. A laterally herniated lumbar disk was seen on myelography. Pain and walking improved after lumbar laminectomy. A chronic focal seizure disorder was associated with CT evidence of a congenital structural defect of the brain.

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.

Journal: :Proceedings 2014
Amritpal Nat Tanya George Gregory Mak Amit Sharma Amitpal Nat Robert Lebel

Isolated visceral arteriopathies of the celiac and hepatic artery are rare. We present a case of a Caucasian man who presented with abdominal pain and was found to have a spontaneous celiac artery dissection. Genetic analysis revealed a mutation consistent with Ehlers-Danlos syndrome type IV. The patient died 2 months later from a spontaneous rupture of his hepatic artery.

Journal: :European journal of anaesthesiology 2009
Jessica T Wegener Jan Frässdorf Markus F Stevens

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