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Surviving the storm: A 6-year journey with bowel perforations and aneurysms in vascular Ehlers-Danlos syndrome - A case report. [PDF]
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Vascular Ehlers–Danlos Syndrome
Annales De Génétique, 2004Vascular Ehlers-Danlos syndrome, also known as Ehlers-Danlos syndrome type IV, is a life-threatening inherited disorder of connective tissue, resulting from mutations in the COL3A1 gene coding for type III procollagen. Vascular EDS causes severe fragility of connective tissues with arterial and gastrointestinal rupture, and complications of surgical ...
Dominique P Germain
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Vascular Aspects of the Ehlers-Danlos Syndromes
Matrix Biology, 2018The Ehlers-Danlos Syndromes comprise a heterogeneous group of rare monogenic conditions that are characterized by joint hypermobility, skin and vascular fragility and generalized connective tissue friability. The latest classification recognizes 13 clinical subtypes, with mutations identified in 19 different genes.
Fransiska Malfait
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The dysmorphic phenotype in vascular Ehlers Danlos syndrome
Clinical Dysmorphology, 2022The Ehlers Danlos syndromes are identified by their connective tissue features and are not rich in dysmorphic handles. Vascular Ehlers Danlos syndrome (vEDS) however, is characterised by a recognisable phenotypic constellation of internal and external dysmorphology.
James R, Lyness, Patrick J, Morrison
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Haemothorax in vascular Ehlers-Danlos syndrome
Reumatología Clínica (English Edition), 2019Vascular Ehlers-Danlos syndrome (EDS IV) is a rare genetic disorder characterized by an alteration in the COL3A1 gene which encodes type III collagen. It is the most common type of collagen in vessels of medium size and certain organs such as the intestines and the uterus.
Kevin, Álvarez +2 more
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The vascular ehlers-danlos syndrome
Current Treatment Options in Cardiovascular Medicine, 2006Vascular Ehlers-Danlos syndrome (EDS) is a life-threatening inherited disorder of connective tissue causing severe arterial and gastrointestinal fragility and rupture, as well as complications of surgical and radiologic interventions. The diagnosis should be considered in patients under the age of 45 years who present with arterial tearing or ...
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Vascular Manifestations in Patients With Ehlers-Danlos Syndrome
Archives of Surgery, 1982Ehlers-Danlos syndrome (EDS) is clinically and genetically a heterogenous disorder of connective tissue synthesis. Seven clinical types of this disease have been identified and the underlying biochemical defects defined in types IV through VII. Unfortunately, most patients with major vascular complications of EDS have few, if any of the commonly ...
G C, Hunter +4 more
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