The Ehlers‐Danlos Syndrome

Published on Apr 30, 2003
· DOI :10.1002/0471221929.ch9
Beat Steinmann6
Estimated H-index: 6
(UZH: University of Zurich),
Peter M. Royce10
Estimated H-index: 10
(UZH: University of Zurich),
Andrea Superti-Furga43
Estimated H-index: 43
(UZH: University of Zurich)
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  • Citations (306)
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Cited By306
#1Julie Leganger (UCPH: University of Copenhagen)H-Index: 2
#2Siv Fonnes (UCPH: University of Copenhagen)H-Index: 5
Last. Jakob Burcharth (UCPH: University of Copenhagen)H-Index: 19
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Objectives: Ehlers-Danlos syndrome (EDS) constitutes a group of connective tissue diseases with variable organ dysfunction. We aimed to examine the comorbidity burden in patients with EDS.Methods: ...
#1Camille Kumps (UNIL: University of Lausanne)
#2Belinda Campos-Xavier (UNIL: University of Lausanne)H-Index: 9
Last. Andrea Superti-Furga (UNIL: University of Lausanne)H-Index: 50
view all 8 authors...
Recessive loss-of-function variants in SLC39A13, a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been described. We describe here four additional affected individuals from three consanguineous families and the follow up of two of the original cases. In our series, cardinal findings included thin and finely wrinkled skin of the...
#1Farouk Olubajo (Walton Centre)
#2Chandrasekaran Kaliaperumal (Western General Hospital)H-Index: 7
Last. Kishor A. Choudhari (Royal Hallamshire Hospital)H-Index: 6
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Abstract Vascular Ehlers-Danlos (vEDS) is a rare form of the Ehlers-Danlos Syndrome (EDS) where arterial fragility results from mutations in the gene that encodes type III collagen. The disease can lead to major neurological complications including carotico-cavernous fistulae (CCF), aneurysms of the Circle of Willis and endovascular procedures have an increased risk profile due to the delicate vasculature. Management of intracranial disease in vEDS requires an intricate understanding of the synd...
#1Beat SteinmannH-Index: 51
#2Marianne RohrbachH-Index: 22
Last. Gabor MatyasH-Index: 20
view all 3 authors...
#1Neeti Ghali (NWU: North-West University)H-Index: 6
#2Glenda J. SobeyH-Index: 7
Last. Nigel Burrows (Cambridge University Hospitals NHS Foundation Trust)H-Index: 18
view all 3 authors...
### What you need to know Awareness of the Ehlers-Danlos syndromes (EDS) in the UK has risen over the past decade, in part due to high profile of EDS patient organisations and the EDS National Diagnostic Service commissioned in 2009. Significant advances in genetic testing have culminated in the publication of a new international classification in 2017 with 13 types identified.1 Clinicians will see an increasing number of patients, some of whom will suspect a diagnosis of EDS themselves. This ar...
4 CitationsSource
#1Samina Nayani (University of Cambridge)
Last. Charlotte Curl (University of Cambridge)H-Index: 2
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Ehlers-Danlos Syndrome (EDS) affects the metabolism of collagen which can have implications throughout the body, impacting on not only the skin, but also the joints, muscles, cardiovascular and gas...
Last. Sunil J. Patel (MUSC: Medical University of South Carolina)H-Index: 26
view all 6 authors...
A great deal of literature has drawn attention to the “complex Chiari,” wherein the presence of instability or ventral brainstem compression prompts consideration for addressing both concerns at the time of surgery. This report addresses the clinical and radiological features and surgical outcomes in a consecutive series of subjects with hereditary connective tissue disorders (HCTD) and Chiari malformation. In 2011 and 2012, 22 consecutive patients with cervical medullary syndrome and geneticist...