Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and 
symmetrical syndactyly of the digits (cutaneous and bony fusion), has been 
associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the 
great majority of cases. Since these two alterations have been observed 
exclusively among these patients, it has been suggested that the S252W and P253R 
changes may play an important role in the occurrence of syndactyly. In order to 
verify whether the mutations S252W and P253R could also cause a milder 
phenotype, without involvement of the limbs, we have screened 22 patients with 
clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these 
two particular changes. Surprisingly, we identified a Pfeiffer-like patient with 
the mutation S252W, and therefore we have shown for the first time the 
occurrence of one of the canonical Apert mutations without severe abnormalities 
of the upper and lower extremities.