Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
A new case of Pfeiffer syndrome with mutation in FGFR2.
Publication types: Case Reports ; Journal Article
We report on a sporadic case of Pfeiffer syndrome in a male newborn with complex craniosynostosis, broad thumbs and great toes and early demise. SSCP and direct sequencing revealed a missense mutation at position 1037 of the exon B (or IIIc) of the FGFR2 gene (codon 342) resulting in a cysteine to serine modification (TGC-TCC). Genotype-phenotype correlations between the FGFRs mutations and the different craniosynostotic syndromes are discussed.
Acrocephalosyndactylia, Craniosynostoses, Fatal Outcome, Fibroblast Growth Factor 2, Humans, Infant, Newborn, Male, Point Mutation
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