Freeman-Sheldon syndrome (FSS), as first described by Freeman and Sheldon in 1938, is a morphologically well-defined syndrome that results in a dysmorphic status combining bone anomalies and joint contractures with characteristic facies. It is part of the nosologic group of pathologies currently known as distal arthrogryposis as reported by Hall et al. (Am J Med Genet 11:185-239, 1982 [1]). It is a rare disorder and its exact prevalence is unknown. Our objective is to report a case of FSS presenting with microstomia and add a brief review of the literature for similar cases.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3847022 | PMC |
| http://dx.doi.org/10.1007/s12663-012-0392-4 | DOI Listing |
Publication Analysis
Top Keywords
freeman-sheldon syndrome
8
presenting microstomia
8
syndrome presenting
4
microstomia case
4
case report
4
report literature
4
literature review
4
review freeman-sheldon
4
syndrome fss
4
fss described
4
Similar Publications
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!