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

Fetal Pediatr Pathol. 2019 Oct;38(5):412-417. doi: 10.1080/15513815.2019.1603256. Epub 2019 Apr 19.


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.

Publication types

  • Case Reports

MeSH terms

  • Acrocephalosyndactylia / diagnosis*
  • Fatal Outcome
  • Female
  • Humans
  • Infant, Newborn
  • Prune Belly Syndrome / diagnosis*
  • Skull / abnormalities