Grants Funded
ASPS/PSF leadership is committed to continuing to provide high levels of investigator-initiated research support to ensure that plastic surgeons have the needed research resources to be pioneers and innovators in advancing the practice of medicine.
Research Abstracts
Search The PSF database to have easy access to full-text grant abstracts from past PSF-funded research projects 2003 to present. All abstracts are the work of the Principal Investigators and were retrieved from their PSF grant applications. Several different filters may be applied to locate abstracts specific to a particular focus area or PSF funding mechanism.
Influence of Mechanical Stress on Muenke Syndrome Craniosynostosis
Principal Investigator
Gregory Lakin MD
Gregory Lakin MD
Year
2008
2008
Institution
University of Pennsylvania
University of Pennsylvania
Funding Mechanism
Basic Research Grant
Basic Research Grant
Focus Area
Cranio/Maxillofacial/Head and Neck
Cranio/Maxillofacial/Head and Neck
Abstract
Muenke syndrome is the most common form of syndromic craniosynostosis, which is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3). Unexpected from a monogenetic syndromic craniosynostosis, the suture phenotype of Muenke syndrome shows incomplete penetrance and variability; some patients show normal patent sutures, whereas others present with unicoronal or bicoronal craniosynostosis. Notably, the incidence of unicoronal synostosis, which is a characteristic feature of non-syndromic cases and not usually present in a syndromic craniosynostosis, is high in Muenke syndrome. This finding implicates the contribution of a localized non-genetic factor to the etiology of Muenke craniosynostosis. Earlier studies including ours have suggested that mechanical stress in the form of intrauterine constraint may be one of the critical factors involved in non-syndromic (unilateral) craniosynostosis. The purpose of this study is to delineate the potential contribution of mechanical stress to Muenke craniosynostosis and the underlying cellular mechanisms.
Muenke syndrome is the most common form of syndromic craniosynostosis, which is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3). Unexpected from a monogenetic syndromic craniosynostosis, the suture phenotype of Muenke syndrome shows incomplete penetrance and variability; some patients show normal patent sutures, whereas others present with unicoronal or bicoronal craniosynostosis. Notably, the incidence of unicoronal synostosis, which is a characteristic feature of non-syndromic cases and not usually present in a syndromic craniosynostosis, is high in Muenke syndrome. This finding implicates the contribution of a localized non-genetic factor to the etiology of Muenke craniosynostosis. Earlier studies including ours have suggested that mechanical stress in the form of intrauterine constraint may be one of the critical factors involved in non-syndromic (unilateral) craniosynostosis. The purpose of this study is to delineate the potential contribution of mechanical stress to Muenke craniosynostosis and the underlying cellular mechanisms.