دورية أكاديمية
Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
| العنوان: | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
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| المؤلفون: | A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker |
| المصدر: | Case Reports in Genetics, Vol 2017 (2017) |
| بيانات النشر: | Hindawi Limited, 2017. |
| سنة النشر: | 2017 |
| المجموعة: | LCC:Genetics |
| مصطلحات موضوعية: | Genetics, QH426-470 |
| الوصف: | We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a de novo missense mutation c.2015G>A (p.Arg672His) of the MYH3 gene. We highlight the different features present in our patient and describe the etiology of the Freeman–Sheldon phenotype and how its clinical complications can be dealt with. To the best of our knowledge, this is the first molecularly confirmed case of Freeman–Sheldon syndrome in sub-Saharan Africa. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2090-6544 2090-6552 |
| Relation: | https://doaj.org/toc/2090-6544; https://doaj.org/toc/2090-6552 |
| DOI: | 10.1155/2017/9327169 |
| URL الوصول: | https://doaj.org/article/498420f4cc9244cea32ddc06621a2ec8 |
| رقم الأكسشن: | edsdoj.498420f4cc9244cea32ddc06621a2ec8 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 20906544 20906552 |
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| DOI: | 10.1155/2017/9327169 |