3.9 Article

Intestinal Malrotation in a Patient With Pfeiffer Syndrome Type 2

Journal

CLEFT PALATE-CRANIOFACIAL JOURNAL
Volume 47, Issue 6, Pages 638-641

Publisher

ALLIANCE COMMUNICATIONS GROUP DIVISION ALLEN PRESS
DOI: 10.1597/09-115

Keywords

FGFR2; intestinal malrotation; Pfeiffer syndrome

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Pfeiffer syndrome is a pleiotropic disorder characterized by multiple suture craniosynostosis, broad and medially deviated thumbs and great toes, and variable cutaneous syndactyly We present the case of a 16-month-old boy with Pfeiffer syndrome type 2 who presented with intestinal malrotation for which the diagnosis was delayed This is a rare complication of Pfeiffer syndrome, with few reported cases in the literature This case illustrates the importance of recognizing gastrointestinal malrotation as a possible cause of feeding intolerance and persistent vomiting in patients with the severe forms of Pfeiffer syndrome

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