Craniosynostosis,
the premature fusion of one or more cranial sutures, is a common malformation in
humans. The skull shape in craniosynostosis can not be explained
simply by the premature fusion of sutures, but involves widespread abnormal
development of the head. At least eight of the craniosynostosis
disorders including Crouzon, Apert and Pfeiffer syndromes are caused by
mutations in fibroblast growth factor receptors (FGFR)-1, -2 or -3, genes that
play fundamental and widespread roles in development. This award funds
additional work concerning craniosynostosis. In our orignal
project, we proposed a unifying study of molecular and morphological research
aimed at understanding development of craniosynostosis. We are
testing developmental associations between skull and brain using 3D data from MR
and CT images of humans with craniosynostosis, and micro-CT and micro-MR of the
mice carrying specific mutations of the Fgfr2 gene that correspond with the
human conditions of Apert and Crouzon syndromes. In this newly
funded project we propose to add an additional mouse model for another human
craniosynostosis condition. Our morphological analyses will inform
our molecular investigations of how these various mutations on a single gene
compare in in the way that they produce developmental
relationships that lead to craniosynostosis phenotypes.
Joan Richtsmeier receives an award from the National Institute of Dental and Craniofacial research
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