Pfeiffer syndrome (PS) is an autosomal dominant condition comprising bilateral 
coronal craniosynostosis, midface hypoplasia with a beaked nasal tip, and broad 
and medially deviated thumbs and great toes. It is a clinically variable 
disorder and has been divided into three subtypes [Cohen, 1993: Am J Med Genet 
45:300-307]. Type 1 represents the less severe cases, while types 2 and 3 are 
the more severe cases. These latter types tend to have a higher risk for 
neurodevelopmental problems and a reduced life expectancy. Here we review the 
clinical course of seven children with PS type 3. All of these children had 
severe manifestations of PS; however, development was essentially normal in 
three, mild delay was noted in two, and moderate delay in one. Favorable 
outcomes in children with types 2 and 3 PS were also documented by Moore et al. 
[1995: Cleft Pal-Craniofac J 32:62-70]. These cases illustrate that while 
children with PS types 2 and 3 have an increased risk for neurodevelopmental 
difficulties, a favorable outcome can be achieved in some cases with aggressive 
medical and surgical management. Finally, although such management should be the 
rule for PS types 2 and 3, it needs to be remembered that normal outcome is not 
the rule. The prognosis for favorable neurodevelopmental outcome and/or life 
expectancy remains guarded in most cases.