Pleiotropic features of syndromic craniosynostoses correlate with differential expression of fibroblast growth factor receptors 1 and 2 during human craniofacial development.

Abstract excerpt

Mutations in FGFR1, -2, and -3 are linked to five human craniosynostosis syndromes. In addition to premature fusion of cranial sutures, nonskeletal manifestations in skin, and teeth together with CNS abnormalities, reflect widespread effects of these mutations. To understand this pleiotropy, we have assessed craniofacial FGFR1 and -2 expression in the human embryo from 6 wk postfertilization. We found that both...

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