Results 1 to 10 of about 1,246,443 (148)

A severe case of PLOD1‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report [PDF]

Clinical Case Reports, 2023
Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility.
Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié, Salma Adham, Clarisse Billon, Anne Legrand, Xavier Jeunemaitre, Fabrice Gillas, Karen Gaudon, Philippe De Mazancourt, Ahmed Mekki, Robert Carlier, Karelle Benistan   +13 more
doaj   +7 more sources

Kyphoscoliotic Ehlers–Danlos syndrome associated with superior mesenteric artery aneurysm and abdominal aortic rupture: a case report [PDF]

Frontiers in Pediatrics
Kyphoscoliotic Ehlers–Danlos syndrome (kEDS) is a rare autosomal connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility and fragility ...
Jiru Li, Keqiang Liu, Xiaodong Zhu, Yaya Xu, Lili Xu, Runmin Chi, Yueniu Zhu   +6 more
doaj   +6 more sources

Spontaneous celiac artery aneurysms in 13-year-old and 10-year-old brothers with PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome [PDF]

Journal of Vascular Surgery Cases and Innovative Techniques
PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome is a rare, autosomal recessive connective tissue disorder characterized by congenital hypotonia, early-onset, progressive kyphoscoliosis, and generalized joint hypermobility. PLOD1-kyphoscoliotic Ehlers-
Apoorva Bhandari, MD, MSc, Victoria Siu, MD, FRCPC, FCCMG, Audra A. Duncan, MD, FACS, FRCSC   +2 more
doaj   +6 more sources

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome: A Case Report

Clinical Case Reports
This report highlights that severe manifestations of intestinal fragility can occur in kyphoscoliotic EDS, as already described in vascular EDS.
Malika Foy, Valentin Renault, Fabrice Gillas, Philippe DeMazancourt, Robert Carlier, Gilles Manceau, Karelle Bénistan   +6 more
doaj   +6 more sources

The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation [PDF]

BMC Medical Genetics, 2020
Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare autosomal recessive connective tissue disorder characterized by progressive kyphoscoliosis, congenital muscular hypotonia, marked joint hypermobility, and severe skin hyperextensibility ...
Xiaolin Ni, Chenxi Jin, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Weibo Xia   +6 more
doaj   +7 more sources

Kyphoscoliotic Ehlers-Danlos syndrome due to a novel homozygous PLOD1 variant: severe vascular involvement and molecular diagnosis [PDF]

BMC Medical Genomics
Background Kyphoscoliotic Ehlers-Danlos syndrome (kEDS, OMIM: #225400) is a rare subtype of Ehlers-Danlos syndrome characterized by joint hypermobility and spinal deformity, with occasional vascular complications.
Yan Yu, Yimo Zeng, Yingdi Liu, Yaning Liu, Qingxin Shi, Huimin Zhu, Juan Wen, Desheng Liang, Zhuo Li, Lingqian Wu   +9 more
doaj   +5 more sources

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases [version 1; peer review: 2 approved] [PDF]

F1000Research, 2021
Background. This study deals with a rare (orphan) monogenic connective tissue disorder - Ehlers-Danlos syndrome kyphoscoliotic type 2 (EDSKS2). Kyphoscoliotic type 2 Ehlers-Danlos syndrome is an autosomal recessive disorder caused by mutations in the ...
Alla Nikolaevna Semyachkina, Ekaterina Alexandrovna Nikolaeva, Nailya Mansurovna Galeeva, Alexander Vladimirovich Polyakov, Maria Andreevna Kurnikova, Vera Аlexandrovna Belova, Irina Valerievna Shulyakova, Ilya Sergeevich Dantsev, Goar Vladimirovna Dzhivanshiryan   +8 more
doaj   +6 more sources

A Cohort of 17 Patients With Kyphoscoliotic Ehlers–Danlos Syndrome Caused by Biallelic Mutations in FKBP14: Expansion of the Clinical and Mutational Spectrum and Description of the Natural History [PDF]

Genetics in Medicine, 2018
PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy, and hearing loss in addition to connective tissue abnormalities such as joint hypermobility and ...
Jacek Pilch, Johannes Koch, Ebtesam Abdalla   +2 more
exaly   +11 more sources

Ehlers-Danlos Syndrome - living with chronic pain. Current knowledge of the disease

Journal of Education, Health and Sport, 2023
Ehlers Danlos Syndrome (EDS) is a group of the most common inherited connective tissue disorders. The main symptoms of this syndrome are excessive skin flexibility, joint hypermobility and blood vessels fragility.
Joanna Olszak, Wojciech Kapłan, Dominika Rachwał, Ewa Piątek, Karolina Zalewa, Lidia Bartoszek, Magdalena Czelej, Hubert Stachowicz, Joanna Mazurek   +8 more
doaj   +1 more source

Ehlers-Danlos Syndrome: Immunologic contrasts and connective tissue comparisons

Journal of Translational Autoimmunity, 2021
Ehlers-Danlos Syndrome (EDS) is a family of multisystemic hereditary connective tissue disorders now comprised of 13 recognized subtypes, classical, classical-like, cardiac-valvular, vascular, hypermobile, arthrochlasia, dermosparaxis, kyphoscoliotic ...
Mareesa Islam, Christopher Chang, M. Eric Gershwin   +2 more
doaj   +1 more source