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

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: A. M. Ali, R. M. Mbwasi, G. Kinabo, E.-J. Kamsteeg, B. C. Hamel, M. C. J. Dekker
Format: Article
Language:English
Published: Hindawi Limited 2017-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/2017/9327169
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spelling doaj-498420f4cc9244cea32ddc06621a2ec82020-11-24T22:32:39ZengHindawi LimitedCase 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
collection DOAJ
language English
format Article
sources DOAJ
author A. M. Ali
R. M. Mbwasi
G. Kinabo
E.-J. Kamsteeg
B. C. Hamel
M. C. J. Dekker
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
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
title 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_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_sort freeman–sheldon syndrome: first molecularly confirmed case from sub-saharan africa
publisher Hindawi Limited
series Case Reports in Genetics
issn 2090-6544
2090-6552
publishDate 2017-01-01
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.
url http://dx.doi.org/10.1155/2017/9327169
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AT gkinabo freemansheldonsyndromefirstmolecularlyconfirmedcasefromsubsaharanafrica
AT ejkamsteeg freemansheldonsyndromefirstmolecularlyconfirmedcasefromsubsaharanafrica
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