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Favorable prognosis for children with Pfeiffer syndrome types 2 and 3: Implications for classification

1998; Wiley; Volume: 75; Issue: 3 Linguagem: Inglês

10.1002/(sici)1096-8628(19980123)75

1096-8628

Nathaniel H. Robin, Jennifer A. Scott, James E. Arnold, Jeffrey A. Goldstein, Bruce B. Shilling, Robert W. Marion, M. Michael Cohen,

Neurogenetic and Muscular Disorders Research

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. Am. J. Med. Genet. 75:240–244, 1998. © 1998 Wiley-Liss, Inc.