European Journal of Pediatrics

, Volume 168, Issue 9, pp 1135–1139 | Cite as

Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome

  • Maria PiccioneEmail author
  • Vincenzo Antona
  • Marcello Niceta
  • Carmelo Fabiano
  • Manuela Martines
  • Alberto Bianchi
  • Giovanni Corsello
Short Report


When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson–Weiss, and Saethre–Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.


Pfeiffer Crouzon Apert Craniosynostosis Finger and toes abnormalities Fibroblast growth factor receptor 


FGFR 1-2-3

fibroblast growth factor receptor 1, 2, 3 genes


twist transcription factor 1 gene


muscle segment homeobox gene 2


ephrin B1 gene


L1 cell adhesion molecule gene


immune globulin like domain II and III


amino acid substitution serine in tryptophan


amino acid substitution proline in arginine


amino acid substitution glutamine in proline


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Copyright information

© Springer-Verlag 2008

Authors and Affiliations

  • Maria Piccione
    • 1
    Email author
  • Vincenzo Antona
    • 1
  • Marcello Niceta
    • 2
  • Carmelo Fabiano
    • 2
  • Manuela Martines
    • 1
  • Alberto Bianchi
    • 3
  • Giovanni Corsello
    • 1
  1. 1.Dipartimento Materno InfantileUniversità di PalermoPalermoItaly
  2. 2.Laboratorio di GeneticaA.O. V. CervelloPalermoItaly
  3. 3.Chirurgia Orale e Maxillo- FaccialePoliclinico S. Orsola-MalpighiBolognaItaly

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