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Shprintzen - Goldberg syndrome without intellectual disability: A clinical report and review of literature.
Eur J Med Genet
December 2024
Human Genetics Department, University Hospital of Liège, Avenue de l'Hôpital 1, 4000, Liège, Belgium.
Shprintzen-Goldberg syndrome is a rare systemic connective tissue disorder caused by heterozygous mutations in the Sloan-Kettering Institute (SKI) gene. The clinical presentation is reminiscent of Marfan and Loeys-Dietz syndromes, making differential diagnosis challenging. Shprintzen-Goldberg syndrome's distinctive features are craniosynostosis and learning disabilities.
View Article and Find Full Text PDFArticle Synopsis
- The Ehlers-Danlos syndromes (EDS) are a group of genetically diverse disorders marked by varying levels of joint hypermobility, skin hyperextensibility, and connective tissue fragility, with 13 recognized types based on clinical features.
- Twelve of these types are linked to specific genetic mutations in 21 confirmed genes, but hypermobile EDS (hEDS) does not have a clear genetic cause and can't be diagnosed through genetic testing.
- The text also discusses the clinical features and molecular bases of the monogenic types, the diagnostic challenges faced, and advises when genetic testing is appropriate.
Hypermobile Ehlers Danlos for the Primary Care Provider.
Mo Med
November 2024
Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, Missouri.
Joint hypermobility is very common in the general population as is arthralgia. Increased awareness of hypermobility and hypermobile Ehlers Danlos Syndrome (hEDS) among patients and providers has led to a surge in demand for evaluation. Many patients with hypermobility meet clinical criteria for a diagnosis of hypermobile spectrum disorder (HSD) or hEDS, but monogenic connective tissue diseases (CTD) are rare.
View Article and Find Full Text PDFA machine learning approach to stratify patients with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders according to disorders of gut brain interaction, comorbidities and quality of life.
Neurogastroenterol Motil
January 2025
Centre for Neuroscience, Surgery and Trauma, Blizard Institute, Wingate Institute of Neurogastroenterology, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Background: A high prevalence of disorders of gut-brain interaction (DGBI) exist in patients with hypermobile Ehlers-Danlos Syndrome (hEDS) and hypermobility spectrum disorders (HSD). However, it is unknown if clusters of hEDS/HSD patients exist which overlap with different DGBIs and whether this overlap influences presence of comorbidities and quality of life. We aimed to study these knowledge gaps.
View Article and Find Full Text PDFHippotherapy in the management of hypermobile Ehlers-Danlos syndrome.
BMJ Case Rep
November 2024
Clinical neurosciences, Alliance Equiphoria, La Canourgue, France.
Hypermobile Ehlers-Danlos syndrome (EDS) is an inherited condition marked by joint hypermobility, instability, chronic pain and fatigue, significantly impacting quality of life and autonomy. Management focuses solely on symptom alleviation. After experiencing a rapid decline in functional abilities, a patient in late adolescence with hypermobile EDS underwent hippotherapy rehabilitation (30 hours).
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