| |  Online-Ressource |
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| Verfasst von: | Angwin, Chloe [VerfasserIn]  |
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| | Byers, P. [VerfasserIn] |
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| | Dulfer, E. [VerfasserIn] |
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| | Ghali, N. [VerfasserIn] |
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| | Harris, Juliette [VerfasserIn] |
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| | Haußer-Siller, Ingrid [VerfasserIn] |
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| | McElroy, Abigail [VerfasserIn] |
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| | Sobey, G. [VerfasserIn] |
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| | van Dijk, F. S. [VerfasserIn] |
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| Titel: | The natural history of dermatosparaxis Ehlers Danlos syndrome |
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| Titelzusatz: | an adult case series |
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| Verf.angabe: | C. Angwin, P. Byers, E. Dulfer, N. Ghali, Juliette Harris, I. Hausser, Abigail McElroy, G. Sobey, F.S. van Dijk |
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| E-Jahr: | 2025 |
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| Jahr: | April 2025 |
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| Umfang: | 13 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Gesehen am 18.07.2025 |
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| Titel Quelle: | Enthalten in: American journal of medical genetics |
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| Ort Quelle: | New York, NY : Wiley-Liss, 2003 |
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| Jahr Quelle: | 2025 |
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| Band/Heft Quelle: | 197(2025), 4 vom: Apr., Artikel-ID e63957, Seite 1-13 |
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| ISSN Quelle: | 1552-4833 |
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| Abstract: | Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow-up. Given the lack of information regarding adults with dEDS, our aim was to describe adults with dEDS to inform management recommendations in adulthood. We report five individuals (2:3 male:female) with an age range of 22-42 years. Complications include extreme skin fragility resulting in iatrogenic injury, redundant skin folds often requiring surgical resection, severe complications following a gastric volvulus secondary to a diaphragmatic hernia, and multiple fractures. Discussion of management considerations includes thorough investigations of acute pain, careful consideration of skin closure techniques and manual handling, as well as monitoring for reduced bone mineral density after low-impact fracture and/or post-menopause. |
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| DOI: | doi:10.1002/ajmg.a.63957 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1002/ajmg.a.63957 |
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| | kostenfrei: Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.63957 |
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| | DOI: https://doi.org/10.1002/ajmg.a.63957 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | adulthood |
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| | dermatosparaxis |
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| | Ehlers Danlos syndrome |
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| | management |
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| | skin fragility |
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| K10plus-PPN: | 1931294690 |
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| Verknüpfungen: | → Zeitschrift |
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¬The¬ natural history of dermatosparaxis Ehlers Danlos syndrome / Angwin, Chloe [VerfasserIn]; April 2025 (Online-Ressource)
