The Apert syndrome is characterized by craniosynostosis and syndactyly of hands 
and feet. Although most cases are sporadic, an autosomal dominant mode of 
inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and 
Pro253Arg) account for most of the cases. We report a patient with a rare form 
of Apert syndrome with polydactyly. The proposita has turribrachycephaly. 
complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of 
all toes). The X-rays revealed craniosynostosis of the coronal suture and 
preaxial polydactyly of hands and feet with distal bony fusion. Molecular 
analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight 
patients with Apert syndrome and preaxial polydactyly have been reported and 
this is the first case in which molecular diagnosis is available. On the basis 
of the molecular findings in this patient, polydactyly should be considered part 
of the spectrum of abnormalities in the Apert syndrome. This assertion would 
establish the need for a new molecular classification of the 
acrocephalopolysyndactylies.