Bladder exstrophy‐epispadias complex |
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| Authors: | Michael Ludwig Bonnie Ching Heiko Reutter Simeon A. Boyadjiev |
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| Affiliation: | 1. Department of Clinical Chemistry and Pharmacology, University of Bonn, Bonn, Germany;2. M.L. and H.R. are members of the Network for Systematic Investigation of the Molecular Causes, Clinical Implications and Psychosocial Outcome of Congenital Uro‐Rectal Malformations (CURE‐Net), supported by a research grant from the German Federal Ministry of Education and Research (Bundesministerium für Bildung und Forschung, BMBF).;3. Section of Genetics, Department of Pediatrics, University of California–Davis, Sacramento, California;4. Institute of Human Genetics, Children's Hospital, University of Bonn, Bonn, Germany;5. Department of Neonatology, Children's Hospital, University of Bonn, Bonn, Germany;6. James Brady Urological Institute, Department of Urology, the Johns Hopkins University School of Medicine, Baltimore, Maryland;7. S.A.B. is partially supported by a Children's Miracle Network Endowed Chair and grant CMNSB06. |
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| 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. Birth Defects Research (Part A), 2009. © 2009 Wiley‐Liss, Inc. |
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| Keywords: | bladder exstrophy‐epispadias complex OEIS genetics animal model multifactorial |
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