Journal of Pediatric Urology
Volume 3, Issue 3 , Pages 214-217, June 2007

A genetic model for cloacal exstrophy, the extreme cloacal malformation

  • Nathaniel H. Robin

      Affiliations

    • Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
    • Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA
    • Corresponding Author InformationCorresponding author. Kaul 210, 1530 3rd Av. So., Birmingham, AL 35294-0024, USA. Tel.: +1 205 934 4983; fax: +1 205 975 6389.
    • ,
  • Achara Sathienkijkanchai

      Affiliations

    • Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA
    • ,
  • C.D. Anthony Herndon

      Affiliations

    • Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL, USA
    • Department of Surgery, University of Alabama at Birmingham, Birmingham, AL, USA

Received 20 July 2006; accepted 31 August 2006. published online 23 October 2006.

Abstract 

Cloacal exstrophy (CE) or vesicointestinal fissure is an uncommon but well known anomaly that represents the extreme cloacal malformation. It is most often seen as an isolated anomaly, or as part of the OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Limb anomalies are also seen with CE. Unlike the OEIS complex, limb anomalies occur as independent malformations. Here, we present two cases of CE with limb anomalies that are consistent with the phenotype seen in Disorganization (Ds), an unusual human malformation syndrome. From reviewing the mouse model, it may be that the Ds gene is a candidate for isolated CE as well.

Keywords: Genetic, Cloacal exstrophy, Disorganization

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PII: S1477-5131(06)00156-2

doi:10.1016/j.jpurol.2006.08.003

Journal of Pediatric Urology
Volume 3, Issue 3 , Pages 214-217, June 2007

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