Results 41 to 50 of about 11,601 (222)

Further delineation of FKBP14-related Ehlers-Danlos syndrome: a patient with early vascular complications and non-progressive kyphoscoliosis, and literature review [PDF]

, 2016
FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers.
Aldeeri, Baumann, Beighton, Colombi, Galat, Murray, Rohrbach, Steinmann   +7 more
core   +1 more source

Ehlers–Danlos syndrome, hypermobility type: A characterization of the patients' lived experience [PDF]

, 2013
Hypermobility type Ehlers–Danlos syndrome (EDS‐HT) is an inherited connective tissue disorder clinically diagnosed by the presence of significant joint hypermobility and associated skin manifestations.
Clauw, Daniel J., Murray, Brittney, Petty, Elizabeth M., Uhlmann, Wendy R., Yashar, Beverly M.   +4 more
core   +1 more source

A unique collaborative model providing supportive and self-advocacy tools to the rare disease community

Rare
The National Ehlers-Danlos Syndromes (EDS) service is a highly specialised NHS commissioned service for diagnosing and supporting people with a rare, monogenic type of EDS.
Juliette M. Harris, Jacqui Fish, Jared Griffin, Gemma Hasnaoui, Clare Stacey, Neeti Ghali, Fleur S. van Dijk   +6 more
doaj   +1 more source

Vascular-type Ehlers-Danlos syndrome caused by a hitherto unknown genetic mutation: a case report

Journal of Medical Case Reports, 2013
Introduction Vascular-type Ehlers-Danlos syndrome is an autosomal dominant disease that causes arterial spurting, intestinal perforation, uterine rupture and hemopneumothorax due to decreased production of type III collagen.
Kashizaki Fumihiro, Hatamochi Atsushi, Kamiya Kazunori, Yoshizu Akira, Okamoto Hiroaki   +4 more
doaj   +1 more source

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

, 2012
RIGHTS : This article is licensed under the BioMed Central licence at http://www.biomedcentral.com/about/license which is similar to the 'Creative Commons Attribution Licence'.
Alexander, Philip, Chau, David YS, Tint, Naing L, Whitaker, John K   +3 more
core   +3 more sources

Cervicoplastia na flacidez cutânea por síndrome de Ehlers-Danlos: relato de caso Cervicoplasty in cutaneous laxity from Ehlers-Danlos syndrome: a case report

Revista Brasileira de Cirurgia Plástica, 2010
INTRODUÇÃO: A síndrome de Ehlers-Danlos é um distúrbio raro, caracterizado por anormalidades diversas na estrutura, síntese e secreção do colágeno, resultando em um quadro clínico variado, com alterações cutâneas, articulares e vasculares.
Márcio Rocha Crisóstomo, Victor José Timbó Gondim, André Nunes Benevides, Mara Rocha Crisóstomo, Salustiano Gomes de Pinho Pessoa   +4 more
doaj   +1 more source

Nationwide population-based cohort study of psychiatric disorders in individuals with Ehlers–Danlos syndrome or hypermobility syndrome and their siblings [PDF]

, 2016
Background: To assess the risk of psychiatric disorders in Ehlers-Danlos syndrome (EDS) and hypermobility syndrome. Methods: Nationwide population-based matched cohort study. EDS, hypermobility syndrome and psychiatric disorders were identified through
Almqvist, C., Cederlof, M., Larsson, H., Lichtenstein, P., Ludvigsson, J.F., Serlachius, E.   +5 more
core   +8 more sources

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

Clinical Case Reports, 2023
Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility.
Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan   +13 more
doaj   +1 more source

High prevalence of radiological vertebral fractures in adult patients with Ehlers-Danlos syndrome [PDF]

, 2016
Previous studies have reported an increased prevalence of osteoporosis in Ehlers–Danlos syndrome (EDS), but these were limited by a small number of patients and lack of information on fragility fractures.
Calzavara-Pinton, P., Colombi, M., Doga, M., Dordoni, C., Galderisi, F., Giustina, A, Maroldi, R., Mazziotti, G., Venturini, M.   +8 more
core   +1 more source

Importance of comprehensive genetic testing for patients with suspected vascular Ehlers–Danlos syndrome: a family case report and literature review

Frontiers in Genetics, 2023
Vascular Ehlers–Danlos syndrome (vEDS), the most severe type of Ehlers–Danlos syndrome, is caused by an autosomal-dominant defect in the COL3A1 gene. In this report, we describe the clinical history, specific phenotype, and genetic diagnosis of a man who
Xianda Wei, Xianda Wei, Xu Zhou, BoBo Xie, BoBo Xie, Meizhen Shi, Meizhen Shi, Chunrong Gui, Chunrong Gui, Bo Liu, Caiyan Li, Chi Zhang, Jiefeng Luo, Cundong Mi, Baoheng Gui, Baoheng Gui   +15 more
doaj   +1 more source