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Case Reports in Genetics
Volume 2017, Article ID 9327169, 5 pages
https://doi.org/10.1155/2017/9327169
Case Report

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

1Department of Paediatrics and Child Health, Kilimanjaro Christian Medical Centre, P.O. Box 3010, Moshi, Tanzania
2Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands
3Department of Neurology, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525 GA Nijmegen, Netherlands

Correspondence should be addressed to M. C. J. Dekker; moc.stewz@ekeiram

Received 27 October 2016; Accepted 6 April 2017; Published 11 May 2017

Academic Editor: Shoji Ichikawa

Copyright © 2017 A. M. Ali et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.