Results 41 to 50 of about 1,246,443 (148)

Kyphoscolitic type of Ehlers-Danlos syndrome with prenatal stroke

, 2017
Place: IndiaInternational audienceBACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia.
Gire, Catherine, Catherine Gire, Barthélémy Tosello, Meriem Zahed-Cheikh, Zahed-Cheikh, Meriem, Stéphanie Coze, Tosello, Barthélémy, Coze, Stéphanie   +7 more
core   +1 more source

Equine models in translational medicine: A comparative approach to human health

Animal Models and Experimental Medicine, Volume 9, Issue 5, Page 898-913, May 2026.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh, Katarzyna Ropka‐Molik   +1 more
wiley   +1 more source

Severe conjunctivochalasis in association with classic type Ehlers-Danlos syndrome. [PDF]

, 2012
BACKGROUND: Inferior conjunctivochalasis is common, but is rarely severe enough to require conjunctival excision. This report describes a patient with severe conjunctivochalasis who was subsequently diagnosed with Ehlers Danlos Syndrome, Classic Type ...
Whitaker John K, Tint Naing L, Alexander, Philip, Chau, David Y S, Chau David YS, Alexander Philip, Tint, Naing L, Whitaker, John K., Tint, Naing L., Whitaker, John K; id_orcid, Chau, David Y.S.   +10 more
core   +3 more sources

Pediatric Scoliosis in Osteogenesis Imperfecta: From Genetic Mechanisms to Therapeutic Strategies

Orthopaedic Surgery, Volume 17, Issue 11, Page 3036-3047, November 2025.
This review explores the genetic underpinnings and treatment strategies for spinal deformities in children with osteogenesis imperfecta. Emphasis is placed on emerging molecular insights and modern surgical techniques that improve the management of severe scoliosis and enhance patient outcomes.
Vladislav Muldiiarov, Keely Buesing, Maegen J. Wallace   +2 more
wiley   +1 more source

supplemental information for The prevalence of Marfan’s syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta in patients with Hidradenitis Suppurativa

, 2021
supplemental tables for The prevalence of Marfan’s syndrome, Ehlers-Danlos syndrome, and Osteogenesis Imperfecta in patients with Hidradenitis ...
Kjærsgaard Andersen, R (via Mendeley Data), Kjærsgaard Andersen, Rune   +1 more
core   +1 more source

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 ‐Related Disorders: Clinical Experience and Literature Review

Orthopaedic Surgery, Volume 17, Issue 7, Page 2025-2037, July 2025.
Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6‐related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo‐pelvic traction may also be safe and effective.
Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu, Baozhong Zhang, Terry Jianguo Zhang, Yu Wang, Nan Wu   +13 more
wiley   +1 more source

ORTHOPAEDIC ASPECTS OF THE EHLERS. DANLOS SYNDROME

, 1969
1. The orthopaedic features of 100 patients with the Ehlers-Danlos syndrome are described. 2. The significance of these findings is discussed and comment is made of their relationship to the other stigmata of the syndrome.
F. Horan, P. Beighton
core   +1 more source

Investigation into the Ehlers-Danlos syndrome [PDF]

, 1954
Since the 17th century there has been a certain confusion in diagnosis of what is now called the Ehlers-Danlos syndrome. In 1682 Meekrin described the case of a Spaniard who could make his skin stretch to an enormous extent, and appears to have confused ...
Mories, Alexander
core   +1 more source

PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome

Clinical characteristics PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS) is characterized by hypotonia, generalized joint hypermobility, early-onset kyphoscoliosis, skin fragility, and ocular abnormality. Intelligence is normal. Life span may be normal, but affected individuals are at risk of life-threatening arterial ruptures and ...
Rohrbach, Marianne, Giunta, Cecilia
openaire   +1 more source

Clinical characterization of Collagen XII‐related disease caused by biallelic COL12A1 variants

Annals of Clinical and Translational Neurology, Volume 12, Issue 3, Page 602-614, March 2025.
Abstract Objective While there have been several reports of patients with dominantly acting COL12A1 variants, few cases of the more severe recessive Collagen XII‐related disorders have previously been documented. Methods We present detailed clinical, immunocytochemical, and imaging data on eight additional patients from seven families with biallelic ...
Riley M. McCarty, Dimah Saade, Pinki Munot, Chamindra G. Laverty, Hailey Pinz, Yaqun Zou, Meghan McAnally, Pomi Yun, Cuixia Tian, Ying Hu, Lucy Feng, Rahul Phadke, Sophia Ceulemans, Pilar Magoulas, Andrew J. Skalsky, Jennifer R. Friedman, Stephen R. Braddock, Sarah B. Neuhaus, Denise M. Malicki, Matthew N. Bainbridge, Shareef Nahas, David P. Dimmock, Stephen F. Kingsmore, Timothy E. Lotze, A. Reghan Foley, Francesco Muntoni, Volker Straub, Sandra Donkervoort, Carsten G. Bönnemann   +28 more
wiley   +1 more source