3,788 results match your criteria Ehlers-Danlos Syndrome
Am J Med Genet A 2018 Dec 11. Epub 2018 Dec 11.
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.
Biallelic variants in the AEBP1 gene cause a novel autosomal-recessive connective tissue disorder (CTD) reminiscent of Ehlers-Danlos Syndrome (EDS). The four previously reported individuals show considerable clinical variability. Unbiased high-throughput sequencing enables the rapid identification of additional cases for such rare entities. Read More
JAMA Ophthalmol 2018 Dec 13. Epub 2018 Dec 13.
Wilmer Eye Institute, Baltimore, Maryland.
J Cardiol Cases 2012 Jun 10;5(3):e171-e172. Epub 2012 Apr 10.
Department of Cardiology and Respirology, Gifu University Graduate School of Medicine, Gifu, Japan.
J Cardiol Cases 2011 Feb 12;3(1):e29-e32. Epub 2010 Nov 12.
Department of Medicine and Biological Science, Gunma University Graduate School of Medicine, 3-39-15 Showa-machi, Maebashi, Gunma 371-8511, Japan.
We report a case of a 45-year-old woman with Ehlers-Danlos syndrome (EDS) type IV, the vascular type, who presented with multiple coronary artery ruptures causing cardiac tamponade. She had sudden onset of chest pain soon after transarterial embolization for right carotid-cavernous fistula. Transthoracic echocardiography confirmed cardiac tamponade and hypokinetic inferolateral wall. Read More
Neurogenetics 2018 Dec 8. Epub 2018 Dec 8.
Department of Child Neurology and Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University Medical Center, De Boelelaan 1117, 1081 HV, Amsterdam, The Netherlands.
Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain. Read More
Rev Med Chil 2018 Aug;146(8):938-942
Departamento de Dermatología, Pontificia Universidad Católica de Chile, Santiago, Chile.
Ehlers Danlos Syndrome comprises a heterogeneous group of genetic disorders of the connective tissue, due to defects in collagen or its modifying enzymes. We report a 21 years old male presenting with translucent skin revealing the subcutaneous venous pattern. He had a thin face, large-appearing eyes, thin lips, thin nose, joint hypermotility and history of hip dysplasia. Read More
Gynecol Obstet Fertil Senol 2018 Nov 26. Epub 2018 Nov 26.
Service de gynécologie-obstétrique, hôpital Armand-Trousseau, Assistance publique-Hôpitaux de Paris, 26, avenue du Dr Arnold-Netter, 75012 Paris, France; Inserm U1153, équipe EPOPé, épidémiologie obstétricale périnatale et pédiatrique, centre de recherche en statistiques et épidémiologie, université Paris Descartes, DHU risques et grossesse, 53, avenue de l'observatoire, 75014 Paris, France.
Objective: To describe maternal deaths in France associated with Marfan's syndrome or vascular Ehlers-Danlos syndrome.
Study Design: A retrospective descriptive study based on data from the national confidential enquiry into maternal deaths, in France, during 2001-2012. Characteristics of the patients, their pregnancies and details of their deaths were analysed. Read More
Respiration 2018 Nov 28:1-8. Epub 2018 Nov 28.
Department of Pulmonology, University Hospital Zurich, Zurich,
Background: In Ehlers-Danlos syndrome (EDS), a group of monogenic disorders affecting connective tissues, obstructive sleep apnoea (OSA) is highly prevalent in adults. The prevalence of OSA in children with EDS is unknown.
Objectives: This prospective cross-sectional study aimed at determining the prevalence of OSA in paediatric EDS patients. Read More
J Arthroplasty 2018 Sep 27. Epub 2018 Sep 27.
Department of Orthopedic Surgery, Mayo Clinic, Jacksonville, FL.
Background: Ehlers-Danlos syndromes (EDS) are connective tissue disorders that cause defects in collagen synthesis or processing, resulting in joint hypermobility. Following total knee arthroplasty (TKA), concern exists that hypermobility will affect the outcome as prosthesis relies on soft tissues for stability. The purpose of this study is to investigate the outcome of TKA in the setting of EDS compared to patients undergoing TKA for osteoarthritis (OA). Read More
Arch Dis Child Educ Pract Ed 2018 Nov 26. Epub 2018 Nov 26.
Department of Paediatrics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
A previously well 15-year-old boy presented to the emergency department with sudden-onset severe back pain and inability to weight bear. Preceding this event, he stretched out in bed and felt a click in his back.On examination, he was alert and interactive with normal vital signs. Read More
Am J Cardiol 2018 Oct 30. Epub 2018 Oct 30.
Brigham and Women's Hospital Heart & Vascular Center, Harvard Medical School, Boston, Massachusetts. Electronic address:
The pathophysiology of spontaneous coronary artery dissection (SCAD) is heterogeneous, associated with systemic arteriopathies and inflammatory diseases, and often compounded by environmental precipitants, genetics, or stressors. However, the frequency of these associated conditions with SCAD on a population level remains unknown. Therefore, the objective of this analysis was to evaluate heterogeneous phenotypes of SCAD in the United States using data from the Nationwide Inpatient Sample collected from January 1, 2004, to September 31, 2015. Read More
Genet Med 2018 Nov 26. Epub 2018 Nov 26.
Assistance Publique-Hôpitaux de Paris, Hôpital Européen Georges Pompidou, Centre de Référence des Maladies Vasculaires Rares, Paris, France.
Purpose: Vascular Ehlers-Danlos syndrome (vEDS) is a rare inherited autosomal dominant disorder caused by COL3A1 pathogenic variants. A high percentage of de novo cases has been suggested. Part of it could be due to parental mosaicism, but its frequency is unknown. Read More
Am J Med Genet B Neuropsychiatr Genet 2018 Nov 23. Epub 2018 Nov 23.
Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo (FG), Italy.
The 2017 nosology defines the new criteria for hypermobile Ehlers-Danlos syndrome (hEDS), which is now considered one end of a continuous spectrum encompassing isolated, nonsyndromic joint hypermobility (JH) and hypermobility spectrum disorders (HSDs). Preliminary data indicate a link between JH and neurodevelopmental disorders and, in particular, developmental coordination disorder (DCD) in children. Assessing DCD in adults is difficult and the recently described functional difficulties questionnaire 9 (FDQ-9) is one of the few available tools. Read More
Dig Liver Dis 2018 Oct 28. Epub 2018 Oct 28.
Pathology Section, Department of Molecular and Translational Medicine, Spedali Civili and University of Brescia, Brescia, Italy.
Sci Rep 2018 Nov 20;8(1):17134. Epub 2018 Nov 20.
Department of Medical Cell Biology, School of Medicine, Aichi Medical University, Nagakute, Aichi, 480-1195, Japan.
Chondroitin sulfate (CS) proteoglycan is a major component of the extracellular matrix and plays an important part in organogenesis. To elucidate the roles of CS for craniofacial development, we analyzed the craniofacial morphology in CS N-acetylgalactosaminyltransferase-1 (T1) gene knockout (KO) mice. T1KO mice showed the impaired intramembranous ossification in the skull, and the final skull shape of adult mice included a shorter face, higher and broader calvaria. Read More
Clin Case Rep 2018 Nov 15;6(11):2256-2261. Epub 2018 Oct 15.
Department of Biochemistry St. George's University St. George's Grenada.
A 1-year-old girl from an underserved community presented with irritability, pain, and delayed motor skills. Our genetics outreach program facilitated the diagnosis of Ehlers-Danlos syndrome masquerading as developmental delay after noting hyperextensible skin. Diagnosis for this family allows for state-of-the-art cardiac monitoring and appropriate symptomatic treatment for this rare disease. Read More
J Foot Ankle Res 2018 7;11:59. Epub 2018 Nov 7.
1School of Health Sciences, Faculty of Health and Medicine, University of Newcastle, Central Coast Campus, Ourimbah, NSW 2258 Australia.
Background: Hypermobility Spectrum Disorder and Hypermobile Ehlers Danlos Syndrome are two common heritable genetic disorders of connective tissue. Both conditions are characterised by excessive joint range of motion and the presence of musculoskeletal symptoms, and are associated with joint instability, motion incoordination, decreased joint position sense, and musculoskeletal pain. Hypermobility Spectrum Disorder is the new classification for what was previously known as Joint Hypermobility Syndrome. Read More
Pediatr Cardiol 2018 Nov 11. Epub 2018 Nov 11.
Department of Nursery, Medical University of Gdansk, Gdansk, Poland.
Marfan syndrome (MFS) is a connective tissue disorder characterized by a broad range of clinical manifestations. Cardiovascular involvement is the most life-threatening aspect of the syndrome. Although abnormalities within the cardiovascular system in adults are well documented, there is still a paucity of data regarding manifestation of MFS in childhood. Read More
Autoimmun Rev 2018 Nov 5. Epub 2018 Nov 5.
Unesta Research Center, Tampere, Finland.
Medicine (Baltimore) 2018 Nov;97(45):e13115
Department of Anesthesia, St. Joseph's Hospital, McMaster University, Hamilton, Ontario, Canada.
Rationale: Ehlers-Danlos syndromes (EDSs) are a heterogeneous group of heritable connective tissue disorders involving defective collagen synthesis. Patients with EDS are prone for chronic myofascial pain, apart from other comorbidities. Although the initial pathology is commonly nociceptive, progression of EDS leads to neuropathies and central sensitization of pain signals. Read More
Ophthalmic Genet 2018 Dec 8;39(6):754-758. Epub 2018 Nov 8.
a Retinal Consultants , Des Plaines , IL , USA.
Background: Loeys-Dietz syndrome (LDS) is a connective tissue disorder that has phenotypic overlap with Marfan syndrome. In LDS, the aortic root dissections can be more aggressive and occur at a younger age than Marfan syndrome.
Materials And Methods: Review of two cases. Read More
RMD Open 2018 18;4(Suppl 1):e000790. Epub 2018 Oct 18.
Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Objective: To report the effort of the European Reference Network for Rare and Complex CONnective tissue and musculoskeletal diseases NETwork working group on Ehlers-Danlos syndromes (EDS) and related disorders to assess current available clinical practice guidelines (CPGs) specifically addressed to EDS, in order to identify potential clinician and patient unmet needs.
Methods: Systematic literature search in PUBMED and EMBASE based on controlled terms (MeSH and Emtree) and keywords of the disease and publication type (CPGs). All the published articles were revised in order to identify existing CPGs on diagnosis, monitoring and treatment of EDS. Read More
World Neurosurg 2018 Nov 1. Epub 2018 Nov 1.
Department of Neurosurgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan 5-7-1 Fujishirodai, Suita, Osaka 565-8565, Japan.
Background: Vascular Ehlers-Danlos syndrome (vEDS) is a vascular disease associated with a genetic collagen abnormality. It is characterized by vessel fragility, vessel rupture, and massive hemorrhage. Carotid-cavernous fistula (CCF) is the most frequent neurovascular complication of vEDS. Read More
J Clin Anesth 2018 Nov 1;54:39-40. Epub 2018 Nov 1.
Department of Anesthesiology, Baylor College of Medicine/Texas Children's Hospital, 6621 Fannin St. A3300, Houston, TX 77030, USA. Electronic address:
World Neurosurg 2018 Oct 29. Epub 2018 Oct 29.
Departments of Neurosurgery; Departments of Neurosurgery Office of the Patient Experience; Radiation Oncology; Head and Neck Surgery, and the; UCLA Jonsson Comprehensive Cancer Center, Ronald Reagan UCLA Medical Center, Los Angeles, CA; Department of Neurosurgery; Los Angeles Biomedical Research Institute (LA BioMed) at Harbor-UCLA Medical Center, Torrance, CA. Electronic address:
Background: Superior semicircular canal dehiscence (SSCD) is a rare bony defect in the petrosal temporal bone, creating a new opening between the inner ear and middle cranial fossa. Ehlers-Danlos Syndrome (EDS) is an inherited connective tissue disorder characterized by a defect in collagen synthesis. EDS patients are more likely to have bony abnormalities, which may predispose them to developing SSCD. Read More
Ann Thorac Surg 2018 Oct 22. Epub 2018 Oct 22.
A 24-year-old man with dilated aortic root and vascular type Ehlers-Danlos Syndrome underwent aortic root replacement with a stentless bioprosthesis. A year later he developed aortic valve endocarditis necessitating a redo valve replacement. Excised valve tissue grew fungus Purpureocillium lilacinum. Read More
J Gastroenterol Hepatol 2018 Oct 24. Epub 2018 Oct 24.
Service de génétique, Centre de Référence des Maladies Vasculaires Rares, AP-HP, Hôpital Européen Georges Pompidou, Paris, France.
Background And Aim: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder due to heterozygous mutations in the COL3A1 gene with a dominant negative effect. Spontaneous bowel perforation and intra-abdominal organ rupture are common complications of vEDS. Other gastrointestinal (GI) manifestations may occur but have not been extensively characterized. Read More
Pediatr Emerg Care 2018 Oct 19. Epub 2018 Oct 19.
From the SUNY Downstate Medical Center; and Kings County Hospital, Brooklyn, NY.
Spontaneous colon perforation is a known complication of vascular Ehlers-Danlos syndrome (vEDS) in the pediatric age group. The diagnosis of vEDS is often missed until the child presents to the pediatric emergency room with a complication like spontaneous arterial or colon rupture. These patients require immediate imaging and surgical attention to decrease morbidity and mortality. Read More
Eur J Med Genet 2018 Oct 17. Epub 2018 Oct 17.
Institute "Rudjer Boskovic", Zagreb, Croatia.
Ehlers-Danlos syndrome (EDS) is a heritable connective tissue disorder characterized by skin hyperextensibility, abnormal wound healing, and joint hypermobility with prevalence 1:20 000. Its incidence is probably underestimated due to unknown number of subjects having mild symptoms who may have never been diagnosed through entire life time. Classical EDS is characterized by pathogenic variants of genes encoding type V collagen. Read More
Genet Med 2018 Oct 16. Epub 2018 Oct 16.
Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA, USA.
Purpose: We analyzed the patients served by the University of Washington Adult Genetic Medicine Clinic (UWAGMC) over a 42-year period to determine how clinical services have changed and to evaluate the contributing factors.
Methods: We conducted a retrospective survey of patients seen by UWAGMC that included patients seen from 1975 to 2016. Variables considered included referral indication, disease status, and clinic visit date. Read More
Neuropsychiatr Dis Treat 2018 4;14:2545-2550. Epub 2018 Oct 4.
Department of Neurobiology and Anatomy, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA.
In this report, we discuss the case of an multiple sclerosis (MS) patient, age 62, who learned to attain and sustain euthymia despite his ailments. He has Ehlers Danlos Syndrome (EDS), asthma, MS, urticaria, and major depression (MD). Despite thriving limitations, the patient is an accomplished scientist, who struggled for > twelve years to emerge from being confined to bed and wheel chair with MS, to walking with crutches, scuba diving, writing manuscripts, and living a positive life. Read More
World Neurosurg 2018 Oct 10. Epub 2018 Oct 10.
Department of Neurosurgery, Aichi Medical University, 1-1 Yazakokarimata, Nagakute, Aichi, 480-1195, Japan.
Background: Ehlers-Danlos syndrome is a rare genetic connective tissue disorders, but the vascular type (Type IV) typically poses the greatest risk to patients. We report a case of multiple cranial artery dissection, which was successfully treated with carotid artery stenting.
Case Description: A 50-year-old woman presented with recurrent severe headaches caused by bilateral vertebral artery dissections that were treated conservatively at our hospital. Read More
Musculoskelet Sci Pract 2018 12 5;38:69-76. Epub 2018 Oct 5.
Department of Allied Health Professions, University of the West of England, Bristol, BS16 1DD, UK. Electronic address:
Background: The Bristol Impact of Hypermobility (BIoH) questionnaire is a condition-specific patient-reported outcome measure developed for adults with Joint Hypermobility Syndrome (JHS). It has previously demonstrated strong concurrent validity with the Short-Form 36 health questionnaire and excellent test-retest reliability.
Objectives: This study aimed to evaluate its appropriateness, validity, acceptability, feasibility and interpretability. Read More
J Thromb Haemost 2018 Dec 8;16(12):2425-2431. Epub 2018 Nov 8.
A. Bianchi Bonomi Hemophilia and Thrombosis Center, University of Milan, Milan, Italy.
Essentials Ehlers-Danlos Syndrome (EDS) is a rare heterogeneous group of inherited collagen disorders. A cohort of EDS patients was investigated for bleeding tendency and hemostatic abnormalities. EDS is associated with an increased risk of bleeding. Read More
J Gen Intern Med 2018 Dec;33(12):2257
Department of Medicine, University of California, San Francisco Medical Center, San Francisco, CA, USA.
This paper was inadvertently published with open access; the authors have requested the copyright revert to the society. It has been re-published with appropriate licensing. Read More
Ann Transl Med 2018 Sep;6(17):343
Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona, Verona, Italy.
Childhood obstructive sleep apnea syndrome (OSAS) is characterized by anatomical and functional upper airway abnormalities as pathophysiological determinants, and clinical symptoms are frequently clear. OSAS is widely described in rare genetic disorders, such as achondroplasia, Down syndrome, Prader-Willi syndrome, Pierre Robin sequence, and mucopolysaccharidosis. Craniofacial and upper airway involvement is frequently morbid conditions. Read More
World J Pediatr Congenit Heart Surg 2018 Oct 8:2150135118769418. Epub 2018 Oct 8.
1 Department of Cardiothoracic Surgery, Rady Children's Hospital-San Diego, San Diego, CA, USA.
Ehlers-Danlos syndrome vascular type IV is characterized by translucent skin, easy bruising, and fragility of arteries. A full-term female infant presented at four weeks of age with a diagnosis of d-transposition of the great arteries with restrictive atrial septal defect. She successfully underwent emergent balloon atrial septostomy and placement of patent ductus arteriosus (PDA) stent. Read More
Ann Vasc Surg 2018 Oct 2. Epub 2018 Oct 2.
Division of Vascular Surgery and Endovascular Therapy, Department of Surgery, Johns Hopkins Medical Institutes, Baltimore, MD. Electronic address:
Background: Despite improvements in prevention and management, aortic aneurysm repair remains a high-risk operation for patients with Marfan syndrome (MFS) and Ehlers-Danlos syndrome (EDS). The goal of this study was to examine differences in characteristics and outcomes of patients with MFS or EDS undergoing aortic aneurysm repair at teaching versus nonteaching hospitals.
Methods: We used the National Inpatient Sample to study patients with MFS or EDS undergoing open or endovascular aortic aneurysm repair from 2000 to 2014. Read More
Eur Neurol 2018 4;80(1-2):73-77. Epub 2018 Oct 4.
Department of Medicine, Brown Medical School, Providence, Rhode Island, USA.
In the last decade, a group of chronic disorders associated with fatigue (CDAF) emerged as the leading cause of chronic fatigue, chronic pain, and functional impairment, all of which have been often labeled in clinical practice as chronic fatigue syndrome (CFS) or fibromyalgia. While these chronic disorders arise from various pathophysiologic mechanisms, a shared autoimmune or immune-mediated etiology could shift the focus from symptomatic treatment of fatigue and pain to targeted immunomodulatory and biological therapy. A clinical paradigm shift is necessary to reevaluate CFS and fibromyalgia diagnoses and its relationship to the CDAF entities, which would ultimately lead to a change in diagnostic and therapeutic algorithm for patients with chronic fatigue and chronic pain. Read More
Dermatol Online J 2018 Jul 15;24(7). Epub 2018 Jul 15.
Department of Clinical Sciences and Community Health, University of Milan, IRCCS Ca' Granda Foundation Via San Barnaba.
Classic Ehlers-Danlos syndrome (cEDS) is characterized by skin hyperelasticity, joint hypermobility, increased tendency to bruise, and abnormal scarring. Mutations in type V collagen, a regulator of type I collagen fibrillogenesis, underlie this type of EDS. In this article we report a genetic and clinical analysis of an Italian family that carried missense mutation c. Read More
Retina 2018 Sep 26. Epub 2018 Sep 26.
2nd Department of Ophthalmology, University of Athens, Athens, Greece.
Purpose: To stratify the literature on angioid streaks, from pathophysiology to treatment.
Methods: Review of the current literature.
Results: Angioid streaks are crack-like dehiscences of Bruch membrane, which may coexist with systemic diseases, such as pseudoxanthoma elasticum, Paget disease, Ehlers-Danlos syndrome, hemoglobinopathies, or other diseases of the collagen. Read More
Int Heart J 2018 ;59(5):911-913
Department of Cardiovascular Medicine, The University of Tokyo Hospital.
Mol Genet Genomic Med 2018 Sep 26. Epub 2018 Sep 26.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Background: Genetic providers face the challenge of having adequate time to conduct a comprehensive evaluation. Hypermobile Ehlers-Danlos (hEDS) syndrome has a complex array of symptoms. An initial visit can involve approximately 60-80 min and an additional 45 min for the check-in and checkout process. Read More
Clin Oral Implants Res 2018 Sep 25. Epub 2018 Sep 25.
Department of Operative and Restorative Dentistry, Medical University of Innsbruck, Innsbruck, Austria.
Objectives: Periodontal Ehlers-Danlos syndrome (pEDS) has recently been delineated as a molecularly defined cause of early severe periodontitis. Here we report that implant treatment failed in three affected individuals from one family.
Materials And Methods: Longitudinal data before and after implant treatment were examined for three individuals with genetically confirmed pEDS in the course of a large-scale pedigree analysis. Read More
BMJ Case Rep 2018 Sep 23;2018. Epub 2018 Sep 23.
Department of Pediatrics, Advanced Paediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, Punjab, India.
Musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) is a recently recognised connective tissue disorder. MC-EDS is caused by homozygous or compound heterozygous mutation in the carbohydrate sulfotransferase 14 () gene on chromosome 15q15. Herein, we report a case of a 3-year-old boy with MC-EDS in whom a novel mutation in the gene was discovered. Read More
Rheumatology (Oxford) 2018 Dec;57(12):e57
Anim Genet 2018 Dec 23;49(6):641-644. Epub 2018 Sep 23.
Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Ehlers-Danlos syndrome (EDS) is a group of heritable connective tissue disorders caused by defective collagen synthesis or incorrect assembly of the collagen triple helical structure. EDS is characterised by joint hypermobility, skin hyperextensibility, abnormal scarring, poor wound healing and tissue friability. Human EDS may be caused by variants in several different genes including COL5A1, which encodes the collagen type V alpha 1 chain. Read More
Ultraschall Med 2018 Sep 21. Epub 2018 Sep 21.
USPC Sorbonne Paris Cité, Paris Descartes University, Paris, France.
Objective: Vascular Ehlers-Danlos syndrome (vEDS) is associated with arterial ruptures due to a mutant gene encoding collagen type III (Col-III). To better understand the role of Col-III, we aimed at evaluating aortic stiffness and dynamic stiffening in vEDS mouse models, with either a quantitative (col3KO mice) or a qualitative Col-III defect (col3KI mice).
Materials And Methods: Abdominal aortic wall pulse wave velocities (PWV) in col3KO and col3KI mice were compared to their respective wild type (WT) littermates using a 15 MHz ultrafast ultrasonic transducer. Read More
Rheumatology (Oxford) 2018 Dec;57(12):2250-2251
Centre for Rheumatology and Connective Tissue Disease, Division of Medicine, University College London, London, UK.