Bladder exstrophy-epispadias complex

Birth Defects Res A Clin Mol Teratol. 2009 Jun;85(6):509-22. doi: 10.1002/bdra.20557.

Abstract

The bladder exstrophy-epispadias complex (BEEC) represents an anterior midline defect with variable expression comprising a spectrum of anomalies involving the abdominal wall, pelvis, urinary tract, genitalia, and occasionally the spine and anus. The vast majority of BEEC cases are classified as non-syndromic and the etiology of this malformation is still unknown. This review presents the current state of knowledge on this multifactorial disorder, including historical retrospect, phenotypic and anatomical characterization, epidemiology, proposed developmental mechanisms, existing animal models, and implicated genetic and environmental components. These published lines of evidence argue strongly that BEEC occurs as a result of strong genetic predisposition that is yet to be deciphered.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Bladder Exstrophy / classification
  • Bladder Exstrophy / epidemiology
  • Bladder Exstrophy / genetics
  • Bladder Exstrophy / pathology
  • Disease Models, Animal*
  • Epispadias* / classification
  • Epispadias* / epidemiology
  • Epispadias* / genetics
  • Epispadias* / pathology
  • Female
  • Humans
  • Male