Ontology highlight
ABSTRACT:
SUBMITTER: Ali AM
PROVIDER: S-EPMC5443993 | biostudies-literature | 2017
REPOSITORIES: biostudies-literature
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]