Human Molecular Genetics, Vol 6, 1647-1656, Copyright © 1997 by Oxford University Press
AO Wilkie
Enlargement of the skull vault occurs by appositional growth at the fibrous
joints between the bones, termed cranial sutures. Relatively little is
known about the developmental biology of this process, but genetically
determined disorders of premature cranial suture fusion (craniosynostosis)
provide one route to the identification of some of the key molecules
involved. Mutations of the MSX2, FGFR1, FGFR2, FGFR3 and TWIST genes yield
new insights, both into normal and abnormal cranial suture biogenesis and
into problems of broad interest, such as the conservation of molecular
pathways in development, and mechanisms of mutation and dominance.
REVIEWS
Craniosynostosis: genes and mechanisms
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK. awilkie@worf.molbiol.ox.ac.uk
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