Results 11 to 20 of about 1,246,443 (148)

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

BMJ Case Rep, 2018
Pathogenic variants in the lysyl-hydroxylase-1 gene (PLOD1) are responsible for the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS). The disease is classically responsible for severe hypotonia at birth, progressive kyphoscoliosis, generalised joint hypermobility and scleral fragility.
Henneton P, Legrand A, Giunta C, Frank M.   +3 more
europepmc   +8 more sources

Genetic testing for vascular Ehlers-Danlos syndrome and other variants with fragility of the middle arteries

The EuroBiotech Journal, 2018
Ehlers-Danlos syndrome (EDS) is an umbrella term for various inherited connective tissue disorders associated with mutations in genes involved in extracellular matrix formation.
Rakhmanov Yeltay, Maltese Paolo Enrico, Bruson Alice, Castori Marco, Beccari Tommaso, Dundar Munis, Bertelli Matteo   +6 more
doaj   +2 more sources

Phenotypic variability of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA): clinical, molecular and biochemical delineation [PDF]

Orphanet Journal of Rare Diseases, 2011
Background The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) (OMIM 225400) is a rare inheritable connective tissue disorder characterized by a deficiency of collagen lysyl hydroxylase 1 (LH1; EC 1.14.11.4) due to mutations in PLOD1 ...
Kariminejad Ariana, Jones Kristi, Garcia Sixto, Ataman Esra, Chopra Maya, Serdaroglu Gul, Yiş Uluç, Vandersteen Anthony, Rohrbach Marianne, Kraenzlin Marius, Marcelis Carlo, Baumgartner Matthias, Giunta Cecilia   +12 more
doaj   +9 more sources

FKBP14 kyphoscoliotic Ehlers-Danlos syndrome misdiagnosed as Larsen syndrome: a case report. [PDF]

Cold Spring Harb Mol Case Stud, 2023
Hereditary connective tissue disorders have overlapping phenotypes, particularly in regard to musculoskeletal features. This contributes to the challenge of phenotype-based clinical diagnoses. However, some hereditary connective tissue disorders have distinct cardiovascular manifestations that require early intervention and specific management ...
Wiegand A, Kastury R, Neogi A, Mani A, Bale A, Cox A.   +5 more
europepmc   +3 more sources

Rare Cases of PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome in a Korean Family Identified by Next Generation Sequencing. [PDF]

J Korean Med Sci, 2020
Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is an autosomal recessive connective tissue disorder characterized by muscular hypotonia, hyperextensible skin, skin fragility, joint hypermobility, and progressive kyphoscoliosis. The disorder results from a deficiency of the enzyme collagen lysyl hydroxylase 1 due to mutations in the gene PLOD1.
Shin YL, Park YN, Jang MA.
europepmc   +3 more sources

Between myopathy and mortality: Challenges in the diagnosis of <i>PLOD1</i>-related kyphoscoliotic Ehlers-Danlos syndrome. [PDF]

J Neuromuscul Dis
Objective PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by generalized joint laxity, severe congenital hypotonia, progressive kyphoscoliosis, hyperextensible and easily bruised skin, ocular abnormalities, and significant vascular
Vill K, Brunet T, Brugger M, Wagner M, Baumann M, Schatz U, Pechmann A, Hannibal I, Tacke M, Giunta C, Wohlgemuth W, Wildgruber M, Müller-Felber W, Blaschek A, Rohrbach M, Huf V.   +15 more
europepmc   +3 more sources

Oral Manifestations of Non Vascular Ehlers-Danlos Syndrome Cross-Sectional Study. [PDF]

Oral Dis
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.
Grand A, Fournier BPJ, Chevalier G, Benistan K, Ferré FC.   +4 more
europepmc   +2 more sources

'Pediatric Ehlers-Danlos syndrome VI with retroperitoneal Hemorrhage: case report and management strategy'. [PDF]

Oxf Med Case Reports
Ehlers-Danlos syndrome (EDS) encompasses a spectrum of heritable connective tissue disorders, with the Kyphoscoliotic variant representing a rare manifestation.
Yunus A, Khan M, Jamali AA, Kazi G.
europepmc   +2 more sources

Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas-Mexico Border. [PDF]

Clin Genet
Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Lanehart D, Gray M, Sierra R, Maldonado C, Brooks D, Dai H, Rahimtoola A, Magallan S, Rodriguez S, Gamez J, Rosenlund P, Mulukutla SN, Allegre A, Berry L, Lee B, Scott DA, Vuocolo B, Lalani SR.   +17 more
europepmc   +2 more sources

Transcriptome Profiling of Primary Skin Fibroblasts Reveal Distinct Molecular Features Between PLOD1- and FKBP14-Kyphoscoliotic Ehlers-Danlos Syndrome. [PDF]

Genes (Basel), 2019
Kyphoscoliotic Ehlers–Danlos Syndrome (kEDS) is a rare genetic heterogeneous disease clinically characterized by congenital muscle hypotonia, kyphoscoliosis, and joint hypermobility. kEDS is caused by biallelic pathogenic variants in either PLOD1 or FKBP14. PLOD1 encodes the lysyl hydroxylase 1 enzyme responsible for hydroxylating lysyl residues in the
Lim PJ, Lindert U, Opitz L, Hausser I, Rohrbach M, Giunta C.   +5 more
europepmc   +7 more sources