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  • Title: Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.
    Author: Mathijssen IM, Vaandrager JM, Hoogeboom AJ, Hesseling-Janssen AL, van den Ouweland AM.
    Journal: J Craniofac Surg; 1998 May; 9(3):207-9. PubMed ID: 9693549.
    Abstract:
    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.
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