Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
Joint Authors
Kinabo, Grace
Dekker, Marieke C. J.
Ali, A. M.
Mbwasi, R. M.
Kamsteeg, E.-J.
Hamel, Ben C. J.
Source
Issue
Vol. 2017, Issue 2017 (31 Dec. 2017), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2017-05-11
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Ali, A. M.& Mbwasi, R. M.& Kinabo, Grace& Kamsteeg, E.-J.& Hamel, Ben C. J.& Dekker, Marieke C. J.. 2017. Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Case Reports in Genetics،Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145392
Modern Language Association (MLA)
Ali, A. M.…[et al.]. Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Case Reports in Genetics No. 2017 (2017), pp.1-5.
https://search.emarefa.net/detail/BIM-1145392
American Medical Association (AMA)
Ali, A. M.& Mbwasi, R. M.& Kinabo, Grace& Kamsteeg, E.-J.& Hamel, Ben C. J.& Dekker, Marieke C. J.. Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa. Case Reports in Genetics. 2017. Vol. 2017, no. 2017, pp.1-5.
https://search.emarefa.net/detail/BIM-1145392
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1145392