A neuromuscular disorder with homozygosity for PIEZO2 gene variants: an important differential diagnosis for kyphoscoliotic Ehlers-Danlos Syndrome

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Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Short Case Reports Source Type: research

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ConclusionsPatients with EDS may have elevated risk of postoperative ophthalmic surgical complications. It would seem reasonable to systemically and prospectively explore how patients with EDS respond to ophthalmic surgery. Furthermore, it would seem circumspect to ask surgical candidates patients about whether they carry a diagnosis of EDS or have signs and symptoms of EDS prior to surgery.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
Publication date: Available online 17 January 2020Source: The Journal of Prosthetic DentistryAuthor(s): Francisco X. Azpiazu-Flores, Damian J. Lee, Fengyuang ZhengAbstractEhlers-Danlos syndrome is a rare hereditary disorder of the connective tissue that can have oral manifestations that can complicate the prosthodontic rehabilitation of edentulous patients. Intraoral features such as fragile mucosa, impaired healing, limited intraoral space, and a deep palatal vault can compromise treatment with conventional complete dentures. This clinical report describes the management of a 30-year-old edentulous man with Ehlers-Danlos ...
Source: The Journal of Prosthetic Dentistry - Category: Dentistry Source Type: research
AbstractHypermobile Ehlers-Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are heritable connective tissue disorders associated with pain, activity limitations and participation restrictions. A key feature is reported to be reduced stiffness and increased extensibility and elasticity of connective tissues. Yet diagnosis relies on assessment of joint range of motion, which may be influenced by other factors, and semi-quantitative assessment of forearm skin extensibility. The  objective of this systematic review was to determine if quantitative measures of tissue mechanics can discriminate between hEDS...
Source: Clinical Rheumatology - Category: Rheumatology Source Type: research
Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS.
Source: Autonomic Neuroscience: Basic and Clinical - Category: Neuroscience Authors: Source Type: research
Abstract Despite well-established clinical associations between Hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS), the precise prevalence is unknown. We therefore evaluated for hEDS in 91 POTS participants using the 2017 hEDS diagnostic checklist, which has three major criteria: 1) generalized joint hypermobility (Beighton score), 2) systemic features, family history, and 3) absence of exclusion criteria. Overall, 28 out of 91 POTS participants (31%) met clinical criteria for hEDS. An additional 24% of participants had generalized joint hypermobility without meeting hED...
Source: Autonomic Neuroscience - Category: Neuroscience Authors: Tags: Auton Neurosci Source Type: research
Authors: Riley B Abstract Of the 13 subtypes of Ehlers-Danlos Syndromes (EDSs) identified in the 2017 international classification of EDSs, 12 have a recognized, associated genetic mutation. However, hypermobile EDS (hEDS) currently has no identifiable associated gene. Therefore, patients with hEDS are identified through a set of clinical diagnosis guidelines and criteria, which are meant to differentiate hEDS from other hypermobile joint conditions and other EDSs subtypes. In this article, the authors provide an overview of hEDS symptoms and comborbidities, current treatment options, and the clinical criteria curr...
Source: Journal of the American Osteopathic Association - Category: Complementary Medicine Tags: J Am Osteopath Assoc Source Type: research
uhei Yamada Musculocontractural Ehlers–Danlos Syndome (mcEDS) is a type of EDS caused by biallelic pathogenic variants in the gene for carbohydrate sulfotransferase 14/dermatan 4-O-sulfotransferase 1 (CHST14/D4ST1, mcEDS-CHST14), or in the gene for dermatan sulfate epimerase (DSE, mcEDS-DSE). Thus far, 41 patients from 28 families with mcEDS-CHST14 and five patients from four families with mcEDS-DSE have been described in the literature. Clinical features comprise multisystem congenital malformations and progressive connective tissue fragility-related manifestations. This review outlines recent advances in un...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Review Source Type: research
Publication date: Available online 26 December 2019Source: Actas Dermo-Sifiliográficas (English Edition)Author(s): M. Herrero-Moyano, L. Noguera-Morel, A. Torrelo, A. Hernández-Martín
Source: Actas Dermo-Sifiliograficas - Category: Dermatology Source Type: research
Ehlers-Danlos Syndrome (EDS) is a connective tissue disorder resulting in abnormal collagen synthesis leading to skin, joint, ligament, blood vessel and organ abnormalities. Studies in adult women show an association with heavy menstrual bleeding, dysmenorrhea, and pelvic organ prolapse. We aimed to evaluate gynecologic complaints in pediatric and adolescent patients with EDS and their management by Pediatric and Adolescent Gynecology (PAG) Providers.
Source: Journal of Pediatric and Adolescent Gynecology - Category: OBGYN Authors: Source Type: research
Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are characterised by hypermobility of joints and cardiovascular morbidity, and typical orofacial signs and symptoms are associated with both. Basic knowledge of these should prevent late-stage diagnosis and enable adequate management. This case series comprises all EDS and MFS patients who consulted the Department of Oral and Maxillofacial Surgery at University Hospitals Leuven between 2005 and 2017. Thirty patients had EDS or MFS, and in seven the diagnosis was made based on temporomandibular dysfunction or craniofacial dysmorphism.
Source: The British Journal of Oral and Maxillofacial Surgery - Category: ENT & OMF Authors: Source Type: research
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