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A new case of Pfeiffer syndrome with mutation in FGFR2
M C Addor1, F Gudinchet, R N Laurini
1Division of Medical Genetics, CHUV, Lausanne, Switzerland.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1997
Abstract:
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.