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Ehlers-Danlos Syndrome 

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  1. 01-12-2024 | Ehlers-Danlos Syndrome | Letter

    Craniocervical instability in patients with EhlersDanlos syndromes: outcomes analysis following occipito‑cervical fusion of published cases

    This critique provides a critical analysis of the outcomes following occipito-cervical fusion in patients with Ehlers-Danlos syndromes (EDS) and craniocervical instability. The study examines the efficacy of the surgical intervention and evaluates …

  2. 30-12-2023 | Ehlers-Danlos Syndrome | Letter

    Ten years of successful linaclotide treatment in a patient with intestinal pseudo-obstruction due to Ehlers-Danlos syndrome

  3. Open Access 01-12-2024 | Ehlers-Danlos Syndrome | OriginalPaper

    Patient interest in the development of a center for Ehlers-Danlos syndrome/hypermobility spectrum disorder in the Chicagoland region

    The Ehlers-Danlos Syndromes (EDS) are a group of connective tissue disorders that are hereditary in nature and characterized by joint hypermobility and tissue fragility [ 1 – 3 ]. While musculoskeletal pain and joint laxity are the most common …

  4. Open Access 01-12-2024 | Ehlers-Danlos Syndrome | OriginalPaper

    Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts

    EhlersDanlos syndrome type IV, the vascular type (vEDS), results from mutations in the gene for type III procollagen ( COL3A1) . Affected patients are at risk for arterial, bowel, and uterine rupture [ 1 ]. Clinical diagnosis of vEDS can be made …

  5. Open Access 01-12-2024 | Chiari Malformation | OriginalPaper

    Craniocervical instability in patients with Ehlers-Danlos syndromes: outcomes analysis following occipito-cervical fusion

    Craniocervical instability (CCI) is increasingly recognized in hereditary disorders of connective tissue and in some patients following suboccipital decompression for Chiari malformation (CMI) or low-lying cerebellar tonsils (LLCT). CCI is …

  6. Open Access 01-12-2024 | Ehlers-Danlos Syndrome | OriginalPaper

    Exploring the biopsychosocial impact of hypermobility spectrum disorders and Ehlers-Danlos syndrome in an adult population: a protocol for a scoping review

    Joint hypermobility affects approximately 30% of the population [ 1 ] and is characterised by joints that are able to move actively and/or passively beyond the normal physiological limits [ 2 ]. Conditions associated with joint hypermobility …

  7. Open Access 13-12-2023 | Ehlers-Danlos Syndrome | ReviewPaper

    Psychological interventions to improve pain, fatigue, anxiety, depression, and quality of life in children and adults with hypermobility spectrum disorders and Ehlers-Danlos syndrome: a systematic review

    Hypermobility spectrum disorders (HSD) affect individuals across physical, psychological and social domains, making assessment and management difficult. Management for this condition primarily focuses on addressing the musculoskeletal complaints …

  8. Open Access 16-10-2023 | Ehlers-Danlos Syndrome | Review

    A narrative review of the literature on illness uncertainty in hypermobile ehlers-danlos syndrome: implications for research and clinical practice

    Ehlers-Danlos syndrome (EDS) constitutes a heterogeneous group of connective tissue disorders with different types of the condition characterized by

  9. 02-11-2023 | Ehlers-Danlos Syndrome | OriginalPaper

    Vascular Ehlers-Danlos syndrome with a Novel missense COL3A1 gene mutation present with bilateral spontaneous carotid-cavernous fistula: a case report

    This report describes a unique case of vascular Ehlers-Danlos syndrome (vEDS) characterized by multiple spontaneous direct carotid-cavernous sinus fistulas (CCF). The patient initially presented with ocular symptoms and was effectively treated …

  10. 21-06-2023 | Ehlers-Danlos Syndrome | ReviewPaper

    Growing skull fracture in a child with Ehlers-Danlos syndrome: case report and literature review

    Growing skull fracture (GSF) is a rare complication of head trauma in the pediatric population. The incidence reported is only 0.05 to 1.6% of skull fractures in childhood [ 5 , 6 , 11 ]. More than 50% of cases occur in children under the age of 1 …

  11. Open Access 01-12-2023 | Opioids | ReviewPaper

    Perioperative opioid-minimization approach as a useful protocol in the management of patients with EhlersDanlos syndrome-hypermobility type, craniocervical instability and severe chronic pain who are to undergo occipito-cervical fixation

    Patients suffering from connective tissue disorders like EhlersDanlos syndrome hypermobility type/joint hypermobility syndrome (EDS-HT/JHS) may be affected by craniocervical instability (CCI). These patients experience myalgic encephalomyelitis …

  12. Open Access 01-12-2023 | Ehlers-Danlos Syndrome | ReviewPaper

    Psychological interventions for individuals with Ehlers-Danlos syndrome and hypermobility spectrum disorder: a scoping review

  13. Open Access 01-12-2023 | Craniomandibular Dysfunction and Stress | OriginalPaper

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

    Ehlers-Danlos syndromes (EDS) are classified as rare diseases. EDS are a group of clinically and genetically heterogeneous hereditary disorders affecting the connective tissue. Characteristics are hypermobility of the joints, over-stretchable …

  14. Open Access 01-12-2022 | Ehlers-Danlos Syndrome | OriginalPaper

    Uterine torsion as an elusive obstetrical emergency in pregnancy: is there an association between gravid uterus torsion and EhlersDanlos syndrome?: a case report

    Uterine torsion is defined as rotation of the uterus around its long axis greater than 45°, and it mainly occurs during pregnancy [ 1 ]. Rotation degree varies widely, from 45° to 180°, and dextrorotation is much more frequent [ 2 – 5 ].

  15. 28-06-2023 | Ehlers-Danlos Syndrome | OriginalPaper

    Clinical characteristics of patients with hypermobile type EhlersDanlos syndrome (hEDS) and generalized hypermobility spectrum disorders (G-HSD): an online survey

    To examine the perspective of individuals with Hypermobile EhlersDanlos Syndrome (hEDS) and Generalized Hypermobility Spectrum Disorder (G-HSD), needed to help identify priorities and improve the lives of people living with these conditions. We …

  16. Open Access 01-12-2021 | Spinal Muscular Atrophy | OriginalPaper

    A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report

    Ehlers- Danlos syndrome represents a group of connective tissue disorders, which vary in terms of clinical features, biochemical characteristics and gene mutations.

  17. Open Access 01-12-2021 | Laparotomy | OriginalPaper

    Gastric perforation leading to the diagnosis of classic EhlersDanlos syndrome: a case report

    EhlersDanlos syndrome (EDS) comprises a wide spectrum of overlapping hereditary disorders of the connective tissues. EDS results from defects in the synthesis of collagen, which might lead to a wide range of clinical presentations affecting the …

  18. 31-03-2023 | Ehlers-Danlos Syndrome | Report

    Classic Physical Exam Findings in Ehlers-Danlos Syndrome

  19. Open Access 01-12-2021 | Ehlers-Danlos Syndrome | OriginalPaper

    Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency

    The Ehlers-Danlos syndromes (EDS) are a large heterogeneous group of heritable connective tissue disorders. The 2017 classification regrouped the EDS into six groups (A to F) according to underlying genetic and pathogenic mechanisms [ 1 ]. While …

  20. Open Access 01-12-2021 | Ehlers-Danlos Syndrome | OriginalPaper

    Outcomes of vitrectomy for retinal detachment in a patient with EhlersDanlos syndrome type IV: a case report

    EhlersDanlos syndrome (EDS) is a heritable heterogeneous group of connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility leading to significant bruising and atrophic scarring [ 1 ].

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