دورية أكاديمية
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome : A Patient's View ; Barber-Say/Ablepharon-Macrostomia : Patient’s View
| العنوان: | Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome : A Patient's View ; Barber-Say/Ablepharon-Macrostomia : Patient’s View |
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| المؤلفون: | De Maria, Beatrice, de Jager, Tresia, Sarubbi, Caitlin, Bartsch, Oliver, Bianchi, Alberto, Brancati, Francesco, Chung, Hon-Yin B., David, Albert, Kariminejad, Ariana, Foresti, Maura, Gallottini, Marina, Isidor, Bertrand, Marchegiani, Shannon, Martins, Fabiana, Mazzanti, Laura, Roche, Nathalie, Singh, Ankur, Stevens, Cathy, Suga, Kenichi, Zenker, Martin, Hennekam, Raoul C. |
| بيانات النشر: | Karger |
| سنة النشر: | 2021 |
| المجموعة: | Tokushima University Institutional Repository / 徳島大学機関リポジトリ |
| مصطلحات موضوعية: | Ablepharon-macrostomia syndrome, Barber-Say syndrome, Body satisfaction, Patient perception, Psychosocial functioning, Quality of life, Questionnaire study |
| الوصف: | Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adult woman offered personal testimonies. We focused on perception of illness, body satisfaction, and the consequences for an otherwise normal individual who has a disorder that interferes with body image. The importance of paying particular attention to the management of both the physical appearance and the consequences of these entities on the quality of life is stressed by the affected individuals themselves. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 16618769 16618777 |
| العلاقة: | http://repo.lib.tokushima-u.ac.jp/files/public/11/115604/2021012209133016434/ms_8_4_172.pdfTest; AA12439426; AA1278383X; http://repo.lib.tokushima-u.ac.jp/115604Test |
| الإتاحة: | http://repo.lib.tokushima-u.ac.jp/115604Test |
| حقوق: | Th is article is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0Test/) (http://www.karger.com/Services/OpenAccessLicenseTest). Usage and distribution for commercial purposes as well as any distribution of modifi ed material requires written permission. |
| رقم الانضمام: | edsbas.264888DE |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16618769 16618777 |
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