Research & Literature

Blunt aortic trauma in a patient with the Ehlers-Danlos syndrome type VI.

Yung MY, Murray J, Thompson EC

Journal of surgical case reports 2016; (2016(3)).

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.

Giunta C, Baumann M, Fauth C, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2018; (20(1)):42-54 doi:10.1038/gim.2017.70.

Stroke in Ehlers-Danlos Syndrome Kyphoscoliotic Type: Dissection or Vasculitis?

Quade A, Wiesmann M, Weis J, et al.

Pediatric neurology 2017; (74()):92-96 doi:10.1016/j.pediatrneurol.2017.05.017.

Ehlers Danlos syndrome, kyphoscoliotic type due to Lysyl Hydroxylase 1 deficiency in two children without congenital or early onset kyphoscoliosis.

van Dijk FS, Mancini GMS, Maugeri A, Cobben JM

European journal of medical genetics 2017; (60(10)):536-540 doi:10.1016/j.ejmg.2017.07.011.

Congenital cervical kyphosis in an infant with Ehlers-Danlos syndrome.

Kobets AJ, Komlos D, Houten JK

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2018; (34(7)):1411-1415 doi:10.1007/s00381-018-3750-9.

Arterial fragility in kyphoscoliotic Ehlers-Danlos syndrome.

Henneton P, Legrand A, Giunta C, Frank M

BMJ case reports 2018; (2018()) doi:10.1136/bcr-2018-224423.

Roles of PLODs in Collagen Synthesis and Cancer Progression.

Qi Y, Xu R

Frontiers in cell and developmental biology 2018; (6()):66 doi:10.3389/fcell.2018.00066.

FKBP14 kyphoscoliotic Ehlers-Danlos Syndrome in adolescent patient: the first Colombian report.

Ruiz-Botero F, Ramírez-Montaño D, Pachajoa H

Archivos argentinos de pediatria 2019; (117(3)):e274-e278 doi:10.5546/aap.2019.eng.e274.

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

Lim PJ, Lindert U, Opitz L, et al.

Genes 2019; (10(7)) doi:10.3390/genes10070517.

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

Shin YL, Park YN, Jang MA

Journal of Korean medical science 2020; (35(10)):e96 doi:10.3346/jkms.2020.35.e96.

Adults with Loeys-Dietz syndrome and vascular Ehlers-Danlos syndrome: a cross-sectional study of patient experiences with physical activity.

Johansen H, Velvin G, Lidal I

Disability and rehabilitation 2022; (44(10)):1968-1975 doi:10.1080/09638288.2020.1815874.

Successful repair of a spontaneous scleral rupture in a patient with type VI Ehlers-Danlos syndrome.

Lozada R, Amaral C, Alvarez-Falcón S, et al.

American journal of ophthalmology case reports 2020; (20()):100961 doi:10.1016/j.ajoc.2020.100961.

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

Ni X, Jin C, Jiang Y, et al.

BMC medical genetics 2020; (21(1)):214 doi:10.1186/s12881-020-01154-3.

A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.

Conti R, Zanchi C, Barbi E

Italian journal of pediatrics 2021; (47(1)):28 doi:10.1186/s13052-021-00984-y.

The patient perspective in the era of personalized medicine: What about scanxiety?

Custers JAE, Davis L, Messiou C, et al.

Cancer medicine 2021; (10(9)):2943-2945 doi:10.1002/cam4.3889.

Scanxiety: a scoping review about scan-associated anxiety.

Bui KT, Liang R, Kiely BE, et al.

BMJ open 2021; (11(5)):e043215 doi:10.1136/bmjopen-2020-043215.

A review of respiratory manifestations and their management in Ehlers-Danlos syndromes and hypermobility spectrum disorders.

Chohan K, Mittal N, McGillis L, et al.

Chronic respiratory disease 2021; (18()):14799731211025313 doi:10.1177/14799731211025313.

Procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 increases cellular proliferation and colony formation capacity in lung cancer via activation of E2F transcription factor 1.

Li B, Yang H, Shen B, et al.

Oncology letters 2021; (22(6)):851 doi:10.3892/ol.2021.13112.

Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update.

Blagowidow N

American journal of medical genetics. Part C, Seminars in medical genetics 2021; (187(4)):593-598 doi:10.1002/ajmg.c.31945.

Spinal manifestations of Ehlers-Danlos syndrome: a scoping review.

Marathe N, Lohkamp LN, Fehlings MG

Journal of neurosurgery. Spine 2022; (37(6)):783-793 doi:10.3171/2022.6.SPINE211011.

A severe case of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome associated with several arterial and venous complications: A case report.

Foy M, Métay C, Frank M, et al.

Clinical case reports 2023; (11(2)):e6760 doi:10.1002/ccr3.6760.

Scanxiety among Adults with Cancer: A Scoping Review to Guide Research and Interventions.

Derry-Vick HM, Heathcote LC, Glesby N, et al.

Cancers 2023; (15(5)) doi:10.3390/cancers15051381.

Scanxiety Conversations on Twitter: Observational Study.

Bui KT, Li Z, Dhillon HM, et al.

JMIR cancer 2023; (9()):e43609 doi:10.2196/43609.

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

Wiegand A, Kastury R, Neogi A, et al.

Cold Spring Harbor molecular case studies 2023; (9(3)) doi:10.1101/mcs.a006281.

Endovascular treatment of a ruptured aortic pseudoaneurysm and its complications in an 8-year-old child with Ehlers-Danlos syndrome type VI.

Kahraman Ü, Akhundova M, Çınar C, Ertugay S

Interdisciplinary cardiovascular and thoracic surgery 2023; (37(6)) doi:10.1093/icvts/ivad197.

Scanxiety and quality of life around follow-up imaging in patients with unruptured intracranial aneurysms: a prospective cohort study.

Kamphuis MJ, van der Kamp LT, van Eijk RPA, et al.

European radiology 2024; (34(9)):6018-6025 doi:10.1007/s00330-024-10602-0.

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

Bhandari A, Siu V, Duncan AA

Journal of vascular surgery cases and innovative techniques 2024; (10(3)):101465 doi:10.1016/j.jvscit.2024.101465.

Cataract surgery complications in a patient with brittle cornea syndrome and Ehlers-Danlos syndrome type six: A case report.

Maurino V, Aiello F, Matarazzo F

American journal of ophthalmology case reports 2024; (36()):102120 doi:10.1016/j.ajoc.2024.102120.

LC-MS/MS application for urine free pyridinoline and free deoxypyridinoline: Urine markers of collagen and bone degradation.

Tang JCY, Dutton JJ, Piec I, et al.

Clinical mass spectrometry (Del Mar, Calif.) 2016; (1()):11-18 doi:10.1016/j.clinms.2016.08.001.

Temporal Pattern Analysis of Ultrasound Surveillance Data in Vascular Connective Tissue Disorders.

Walter C, Leinweber ME, Mlekusch I, et al.

Diagnostics (Basel, Switzerland) 2024; (14(16)) doi:10.3390/diagnostics14161749.

Biochemical characterization of collagen I in Warmblood Fragile Foal Syndrome horse lysyl hydroxylase 1 mutation.

Ishikawa Y, Tufa SF, Keene DR, et al.

microPublication biology 2025; (2025()) doi:10.17912/micropub.biology.001399.

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

Yunus A, Khan M, Jamali AA, Kazi G

Oxford medical case reports 2025; (2025(7)):omaf119 doi:10.1093/omcr/omaf119.

Prevalence, severity, and modifiable predictors of scanxiety in patients undergoing routine oncologic imaging: a prospective longitudinal study.

Shah MS, Memon JA, Malik U, et al.

Clinical imaging 2025; (128()):110634 doi:10.1016/j.clinimag.2025.110634.

"You Always Worry": Scan-Related Anxiety Among Patients With Metastatic Lung Cancer.

Derry-Vick H, Prigerson HG, Hahne J, et al.

Journal of the American College of Radiology : JACR 2025; (22(12)):1572-1577 doi:10.1016/j.jacr.2025.08.021.

Exploring the lived experiences of women with metastatic breast cancer and their HRQoL questionnaire preferences: a qualitative study.

Tolstrup LK, Vogsen M, Hildebrandt MG, et al.

Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitation 2026; (35(2)):32.