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

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


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
36 KB
Volume
75
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19980123)75:3<240::aid-ajmg2>3.0.co;2-u

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✦ Synopsis


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.


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