Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
| Autor: | A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Case Reports in Genetics, Vol 2017 (2017) |
| Druh dokumentu: | article |
| ISSN: | 2090-6544 2090-6552 |
| DOI: | 10.1155/2017/9327169 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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