High-grade vesicoureteral reflux in Pfeiffer syndrome.

Received November 2007 Accepted March 2008 INTRODUCTION In 1964, Pfeiffer described an acrocephalosyndactyly syndrome consisting of bicoronal craniosynostosis, midface hypoplasia, broad thumbs, broad big toes, and partial and variable soft-tissue syndactyly of the hands and feet.(1) Autosomal dominant inheritance with complete penetrance is the main characteristic despite variable expressivity related to the presence or absence of syndactyly and its degree of severity. Based on the severity of the phenotype, Cohen proposed a classification of Pfeiffer syndrome into 3 clinical subtypes.(2) We report, a case of Pfeiffer syndrome type 2 with high-grade bilateral vesicoureteral reflux (VUR), and discuss the importance of surveillance for urogenital problems in patients with this syndrome.