Prune belly syndrome associated with cloacal anomaly, patent urachal remnant, and omphalocele in a female infant

Stefano Giuliani, Christopher Vendryes, Ajay Malhotra, Donald B. Shaul, Dean M. Anselmo

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

Prune belly syndrome (PBS), megacystis-microcolon-intestinal hypoperistalsis (MMIH), and omphalocele-exstrophy of the bladder-imperforate anus-spine abnormalities complex (OEIS) are rare congenital malformations of the newborn that lead to incomplete formation of the gastrointestinal and genitourinary tract systems. To date, incomplete mesodermal development is identified as the cause for all these complex genetic syndromes even if the etiology is still unknown. We present an original case sharing characteristics common to PBS, MMIH, and OEIS complex, without a clear inclination toward any particular one. This case hints toward a common pathway in the creation of the 3 syndromes. We hypothesize that they are a spectrum of malformations based on the time frame when the mesoderm fails to create a normal interaction between infraumbilical mesoderm, urorectal septum, lumbosacral somites in the formation of the abdominal wall and the genitourinary and lower gastrointestinal tracts.

Original languageEnglish
Pages (from-to)e39-e42
JournalJournal of Pediatric Surgery
Volume45
Issue number11
DOIs
StatePublished - Nov 2010
Externally publishedYes

Keywords

  • Cloaca
  • Female
  • Omphalocele
  • Prune belly

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