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Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.


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.

SUBMITTER: Ali AM 

PROVIDER: S-EPMC5443993 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Freeman-Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa.

Ali A M AM   Mbwasi R M RM   Kinabo G G   Kamsteeg E-J EJ   Hamel B C BC   Dekker M C J MCJ  

Case reports in genetics 20170511


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 <i>MYH3</i> gene. We highlight the different features present in our patient and describe the etiology of the Freeman-Sheldon phenotype and how  ...[more]

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