Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
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...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2017-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2017/9327169 |
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| author | A. M. Ali R. M. Mbwasi G. Kinabo E.-J. Kamsteeg B. C. Hamel M. C. J. Dekker |
| author_facet | A. M. Ali R. M. Mbwasi G. Kinabo E.-J. Kamsteeg B. C. Hamel M. C. J. Dekker |
| author_sort | A. M. Ali |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-498420f4cc9244cea32ddc06621a2ec8 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-498420f4cc9244cea32ddc06621a2ec82025-02-03T06:11:16ZengWileyCase Reports in Genetics2090-65442090-65522017-01-01201710.1155/2017/93271699327169Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan AfricaA. M. Ali0R. M. Mbwasi1G. Kinabo2E.-J. Kamsteeg3B. C. Hamel4M. C. J. Dekker5Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaDepartment of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, NetherlandsDepartment of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, NetherlandsDepartment of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, TanzaniaWe 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.http://dx.doi.org/10.1155/2017/9327169 |
| spellingShingle | A. M. Ali R. M. Mbwasi G. Kinabo E.-J. Kamsteeg B. C. Hamel M. C. J. Dekker Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa Case Reports in Genetics |
| title | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| title_full | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| title_fullStr | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| title_full_unstemmed | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| title_short | Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa |
| title_sort | freeman sheldon syndrome first molecularly confirmed case from sub saharan africa |
| url | http://dx.doi.org/10.1155/2017/9327169 |
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