Pfeiffer Syndrome Type 3 and Prune Belly Anomaly in a Female: Case Report and Review

Abstract

Background: Pfeiffer syndrome (PS) is an autosomal dominant entity characterized by craniosynostosis, broad thumbs, and preaxially deviated great toes. It is classified in three types depending on the severity. Type 1: Mild to moderate severity, Type 2: Severe presentation with cloverleaf skull, and Type 3: Severe craniosynostosis with prominent ocular proptosis. Association of Pfeiffer syndrome (PS) types 2 and 3 with "prune belly" anomaly has been reported in two non-related patients, one PS type 2 and one PS type 3. Case Report: we report the second case of PS type 3 in a female neonate with "prune belly" anomaly and prenatal exposure to Parvovirus B19. Conclusions: We suggest that the "prune belly" anomaly and others abdominal wall defects as omphalocele and scar-type defects may be included as a feature in PS type 2 and 3.

Keywords: anomaly; Ascites; Omphalocele; Parvovirus B19; Pfeiffer syndrome.