Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

For four of the most well-known craniosynostosis syndromes--Apert's, Crouzon's, Pfeiffer's, and Jackson-Weiss' syndromes--mutations in the fibroblast growth factor receptors (FGFRs) have been described. These substitutions arise mainly in the FGFR-2 gene and to a much lesser degree in the FGFR-1 and FGFR-3 genes. We present a patient with an apparently sporadic type of Pfeiffer's syndrome, exhibiting nearly all associated features of this syndrome. A mutation in the FGFR-2 gene was found, namely serine351-cysteine. This mutation has been reported in only one patient so far, whose phenotype could match both Crouzon's and Pfeiffer's syndromes.