Results 31 to 40 of about 1,246,443 (148)
Human Mutation, 2022 The Ehlers-Danlos syndromes (EDS) are a heterogeneous group of heritable connective tissue diseases. The autosomal recessive kyphoscoliotic EDS results from deficiency of either lysyl hydroxylase 1 (encoded by PLOD1), crucial for collagen cross-linking; or the peptidyl-prolyl cis-trans isomerase family FK506-binding protein 22 kDa (FKBP22 encoded by ...
Marlies Colman +9 more
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Pediatric Innominate Artery Pseudoaneurysm Rupture in Vascular Ehlers-Danlos Syndrome: A Case Report [PDF]
, 2021 INTRODUCTION: Ehlers-Danlos syndrome is a well classified connective tissue disorder recognized by its features of hyperextensibility of joints and hyperelasticity of the skin.
Burns, Katharine M. +5 more
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An acquired or heritable connective tissue disorder? a review of hypermobile Ehlers Danlos Syndrome [PDF]
, 2019 Hypermobile Ehlers Danlos Syndrome (hEDS) is a multifaceted disorder that is difficult to diagnose and manage primarily due to the unknown causes. Research on hEDS continues to evolve but tangible progress will be realized when the growing body of ...
Martin, A.
core +1 more source
Kyphoscoliotic type of Ehlers-Danlos Syndrome (EDS VIA) in six Egyptian patients presenting with a homogeneous clinical phenotype [PDF]
European Journal of Pediatrics, 2014 The kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA) is a rare recessively inherited connective tissue disorder characterized by bruisable, hyperextensible skin, generalized joint laxity, severe muscular hypotonia at birth and progressive congenital scoliosis or kyphosis. Deficiency of the enzyme lysyl hydroxylase 1 (LH1) due to mutations in
Abdalla Ebtesam M +7 more
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FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report
Archivos Argentinos de Pediatria, 2019 Ehlers-Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous inherited connective tissue disorders, characterized by skin hyperextensibility, poor wound healing, joint hypermobility and tissue friability. Since 1997 a new spectrum of novel rare EDS-variants has been described, among which is included the EDS kyphoscoliotic type ...
Felipe, Ruiz-Botero +2 more
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Comorbidity between Autism Spectrum Disorders and hypermobile Ehlers-Danlos syndrome
, 2021 The main goal of this study is to assess the comorbidity between hypermobile Ehlers-Danlos Syndrome (hEDS) symptoms and Autism Spectrum disorders (ASD ...
Morgane Burnel
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Molecular Genetics &Genomic Medicine, Volume 8, Issue 10, October 2020., 2020 We report on a pediatric patient with skin fragility suggestive for classical Ehlers–Danlos syndrome (cEDS) but without marked skin hyperextensibility, who came to our attention with unconvincing results of an external next generation sequencing (NGS) panel that included all cEDS‐associated genes.
Marco Ritelli +3 more
wiley +1 more source
Prevalence of Scoliosis in Hypermobile Ehlers-Danlos Syndrome [PDF]
, 2021 Objective: The main purpose of this study was to evaluate the prevalence, form, and severity of scoliosis in a population of adults meeting the 2017 criteria for hypermobile Ehlers-Danlos syndrome (hEDS).
Robert Carlier +4 more
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Ehlers–Danlos Syndrome in an Adult Woman: A Hidden Syndrome [PDF]
, 2014 Ehlers–Danlos syndrome is a rare disease and a diagnostic challenge. This case report serves to remind the clinician that it is important to identify all affected patients in order to prevent ...
Hu, Cinzia +10 more
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Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI): Report on 23 patients and review of the literature [PDF]
American Journal of Medical Genetics Part A, 2003 AbstractThe brittle cornea syndrome (BCS) is a generalized connective tissue disorder characterized by corneal rupture following only minor trauma, keratoconus or keratoglobus, blue sclerae, hyperelasticity of the skin without excessive fragility, and hypermobility of the joints.
Al-Hussain, H +4 more
openaire +2 more sources