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Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.
Case Rep Genet. 2017; 2017:9327169.CR

Abstract

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.

Authors+Show Affiliations

Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania.Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania. Department of Neurology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands.

Pub Type(s)

Case Reports

Language

eng

PubMed ID

28584669

Citation

Ali, A M., et al. "Freeman-Sheldon Syndrome: First Molecularly Confirmed Case From Sub-Saharan Africa." Case Reports in Genetics, vol. 2017, 2017, p. 9327169.
Ali AM, Mbwasi RM, Kinabo G, et al. Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Case Rep Genet. 2017;2017:9327169.
Ali, A. M., Mbwasi, R. M., Kinabo, G., Kamsteeg, E. J., Hamel, B. C., & Dekker, M. C. J. (2017). Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Case Reports in Genetics, 2017, 9327169. https://doi.org/10.1155/2017/9327169
Ali AM, et al. Freeman-Sheldon Syndrome: First Molecularly Confirmed Case From Sub-Saharan Africa. Case Rep Genet. 2017;2017:9327169. PubMed PMID: 28584669.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. AU - Ali,A M, AU - Mbwasi,R M, AU - Kinabo,G, AU - Kamsteeg,E-J, AU - Hamel,B C, AU - Dekker,M C J, Y1 - 2017/05/11/ PY - 2016/10/27/received PY - 2017/04/06/accepted PY - 2017/6/7/entrez PY - 2017/6/7/pubmed PY - 2017/6/7/medline SP - 9327169 EP - 9327169 JF - Case reports in genetics JO - Case Rep Genet VL - 2017 N2 - 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. SN - 2090-6544 UR - https://www.unboundmedicine.com/medline/citation/28584669/Freeman_Sheldon_Syndrome:_First_Molecularly_Confirmed_Case_from_Sub_Saharan_Africa_ L2 - https://doi.org/10.1155/2017/9327169 DB - PRIME DP - Unbound Medicine ER -
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