FAVORABLE PROGNOSIS FOR CHILDREN WITH PFEIFFER-SYNDROME TYPE-2 AND TYPE-3 - IMPLICATIONS FOR CLASSIFICATION

Pfeiffer syndrome (PS) is an autosomal dominant condition comprising b ilateral coronal craniosynostosis, midface hypoplasia with a beaked na sal tip, and broad and medially deviated thumbs and great toes, It is a clinically variable disorder and has been divided into three subtype s [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 la tter types tend to have a higher risk for neurodevelopmental problems and a reduced life expectancy, Here we review the clinical course of s even children with PS type 3, All of these children had severe manifes tations of PS; however, development was essentially normal in three, m ild delay was noted in two, and. moderate delay in one, Favorable outc omes in children with types 2 and 3 PS were also documented by Moore e t al, [1995: Cleft Pal-Craniofac J 32:62-70], These cases illustrate t hat while children with PS types 2 and 3 have an increased risk for ne urodevelopmental difficulties, a favorable outcome can be achieved in some cases with aggressive medical and surgical management, Finally, a lthough such management should be the rule for PS types 2 and 3, it ne eds to be remembered that normal outcome is not the rule. The prognosi s for favorable neurodevelopmental outcome and/or life expectancy rema ins guarded in most cases. (C) 1998 Wiley-Liss, Inc.