Results 71 to 80 of about 3,078 (199)

Oral Manifestations of Non Vascular Ehlers‐Danlos Syndrome Cross‐Sectional Study

Oral Diseases, EarlyView.
ABSTRACT Background Ehlers–Danlos syndromes are rare hereditary connective tissue disorders; however, their oral manifestations remain poorly characterized in molecularly confirmed individuals. The aim of this study was to describe the oral phenotype of patients with non‐vascular Ehlers‐Danlos syndromes compared to healthy controls.
Aude Grand, Benjamin P. J. Fournier, Grégoire Chevalier, Karelle Benistan, François Côme Ferré   +4 more
wiley   +1 more source

Could the Phenotypic Outcomes of Genetic Variability in Cells Operating in Mechanically Dynamic Environments be Influenced by a Disrupted “Cell‐ECM” Relationship? Using Cystic Fibrosis and Marfan Syndrome as an Example

BioEssays, Volume 48, Issue 4, April 2026.
The “Cell‐Extracellular Matrix Unit” in a mechanically active environment (Centre). Mutations in ECM molecules such as fibrillin‐1 can lead to Marfan Syndrome (A), while mutations in the cellular CFTR can lead to Cystic Fibrosis (B). A combination of such mutations without a clinical phenotype alone could also lead to disease (C). ABSTRACT Diseases due
David A. Hart
wiley   +1 more source

A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. [PDF]

, 2017
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy,
A Karaa, A Nadeau, AA Aldeeri, Adnan Y Manzur, AK Lampe, Angela F Brady, Anthony Vandersteen, AR Janecke, Ariana Kariminejad, B Steinmann, Bernarda Lozic, C Dordoni, C Giunta, C Nagashima, Carsten G Bönnemann, Cecilia Giunta, CG Bönnemann, Christine Fauth, Diana S Johnson, E Mercuri, Ebtesam M Abdalla, F Malfait, F Michael Pope, Fleur S van Dijk, GJ Halko, Glenda Sobey, Gudrun Schreiber, H Okamura, J Kirschner, Jacek Pilch, Jahannaz Dastgir, James Collins, Jenny E V Morton, Johannes Koch, Johannes Zschocke, L Van Laer, M Baumann, Marianne Rohrbach, Marius Kraenzlin, Martina Witsch-Baumgartner, Matthias Baumann, ME Kraenzlin, ML Murray, MP Wattjes, Nayana Lahiri, NC Voermans, Neeti Ghali, Nora L Shannon, P Beighton, PW Tan, R Rizzo, Rebecca C Pollitt, Sandra Donkervoort, SP Boudko, TH Milhorat, Uschi Lindert, WI Schievink, Y Ishikawa, Y von Kodolitsch, Y Zou   +59 more
core   +3 more sources

P37 Hypermobile ehlers-danlos syndrome explosion in the UK!! [PDF]

Abstracts, 2019
Background Ehlers-Danlos Syndrome (EDS) is a heterogeneous group of collagen disorders. There is controversy regarding clinical diagnosis of hypermobility EDS. The Beighton score and the recent international classification of EDS are not validated in children. Clinicians get the impression that there is a substantial increase in frequency of referrals
Fatemeh Jenabi, Alice Leahy, Nicola Foulds, Hans de Graaf   +3 more
openaire   +1 more source

The Extracellular Matrix Across States: From Homeostasis to Dysfunction in Rare Connective Tissue Disorders

Proteoglycan Research, Volume 4, Issue 2, April 2026.
ABSTRACT The extracellular matrix (ECM) provides a dynamic environment in which the fine balance between biosynthesis, degradation and/or maturation of matrix components critically governs its structure and function. It is well established that the ECM plays a central role not only in the physiological functions of tissues, but also in the pathogenesis
Roméo M. Diana, Sandrine Gulberti, Catherine Bui   +2 more
wiley   +1 more source

Surgical management of pes planus in children with hypermobile Ehlers-Danlos: A case report and review of literature

Foot & Ankle Surgery: Techniques, Reports & Cases
Ehlers-Danlos Syndrome (EDS) is a genetic condition that affects your body's connective tissues. There are many subtypes to the disease, the most relevant to the lower extremity is hypermobile EDS.
Aaron Abraham, DPM, Robert Brarens, DPM, FACFAS   +1 more
doaj   +1 more source

Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant [PDF]

, 2016
BACKGROUND: Ehlers Danlos Syndrome is a rare form of inherited connective tissue disorder, which primarily affects skin, joints, muscle, and blood cells.
Chiavacci, R., Connelly, J. J., Desai, A., Hadley, D., Hakonarson, H., Hou, C., Kim, C., Lyon, G., March, M.   +8 more
core   +1 more source

Evidence of ventilatory constraints during exercise in hypermobile Ehlers–Danlos syndrome

European Journal of Applied Physiology, 2022
Hypermobile Ehlers-Danlos syndrome (hEDS) is a connective tissue disorder with many different symptoms such as pain, fatigue, dysautonomia, or respiratory symptoms. Among the respiratory manifestations described, the most frequent are exertional dyspnea and breathing difficulties.
Adrien Hakimi, Cyrille Bergoin, Patrick Mucci   +2 more
openaire   +5 more sources

Association Between Changes in Shoulder Strength and Self‐Reported Shoulder Symptoms in Patients With Hypermobility Following 16‐Weeks of High‐Load or Low‐Load Exercise: A Secondary Analysis of an RCT

Physiotherapy Research International, Volume 31, Issue 2, April 2026.
ABSTRACT Background and Purpose Hypermobility Spectrum Disorder (HSD) is a common musculoskeletal condition that impairs function and quality of life. While exercise therapy has shown to improve outcomes, treatment standardisation is lacking and the relationship between strength and symptoms remains unclear.
Thomas Christensen, Carsten Bogh Juhl, Birgit Juul‐Kristensen, Søren T. Skou, Jens Søndergaard, Karen Søgaard, Behnam Liaghat   +6 more
wiley   +1 more source

Prevalence and quality of temporomandibular disorders, chronic pain and psychological distress in patients with classical and hypermobile Ehlers-Danlos syndrome: an exploratory study

Orphanet Journal of Rare Diseases, 2023
Background The Ehlers-Danlos syndromes are a group of clinically and genetically heterogeneous hereditary diseases affecting the connective tissue. They are characterized by hypermobility of the joints, hyperextensible skin and friable tissue.
Leon Willich, Lauren Bohner, Jeanette Köppe, Jochen Jackowski, Marcel Hanisch, Ole Oelerich   +5 more
doaj   +1 more source