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.

References 

  1. Hurwitz RS, Manzoni GA, Ransley PG, Stephens FD. Cloacal exstrophy: a report of 34 cases. J Urol. 1987;138:1060–1064
  2. Lund DP, Hendren WH. Cloacal exstrophy: a 25-year experience with 50 cases. J Pediatr Surg. 2001;36:68–75
  3. Hendren WH. Urogenital sinus and cloacal malformations. Semin Pediatr Surg. 1996;5:72–79
  4. Gearhart JP. Extrophy, epispadias, and other bladder anomalies. In:  Walsh PC,  Retik AB,  Vaughan ED,  Wein AJ editor. Campbell's urology. 8th ed.. Philadelphia: W.B. Saunders; 2002;p. 2136–2196
  5. Carey JC, Greenbaum B, Hall BD. The OEIS complex (omphalocele, exstrophy, imperforate anus, spinal defects). Birth Defects Orig Artic Ser. 1978;253–263
  6. Keppler-Noreuil KM. OEIS complex (omphalocele-exstrophy-imperforate anus-spinal defects): a review of 14 cases. Am J Med Genet. 2001;99:271–279
  7. Jain M, Weaver DD. Severe lower limb defects in exstrophy of the cloaca. Am J Med Genet. 2004;128A:320–324
  8. Shanske AL, Pande S, Aref K, Vega-Rich C, Brion L, Reznik S, et al. Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) in triplet pregnancy after IVF and CVS. Birth Defects Res A Clin Mol Teratol. 2003;67:467–471
  9. Robin NH, Nadeau JH. Disorganization in mice and human. Am J Med Genet. 2001;101:334–338
  10. Hummel KP. The inheritance and expression of disorganization, an unusual mutation in the mouse. J Exp Zool. 1958;137:389–423
  11. Donnai D, Winter RM. Disorganization: a model for “early amnion rupture”?. J Med Genet. 1989;26:421–425
  12. Crosby JL, Varnum DS, Washburn LL, Nadeau JH. Disorganization is a completely dominant gain-of-function mouse mutation causing sporadic developmental defects. Mech Dev. 1992;37:121–126
  13. Crosby JL, Varnum DS, Nadeau JH. Two-hit model for sporadic congenital anomalies in mice with the disorganization mutation. Am J Hum Genet. 1993;52:866–874
  14. Iwakuma T, Lozano G, Flores ER. Li-Fraumeni syndrome: a p53 family affair. Cell Cycle. 2005;865–867
  15. Opitz JM. Blastogenesis and the “primary field” in human development. Birth Defects Orig Artic Ser. 1993;29:3–37
  16. Martinez-Frias ML, Bermejo E, Rodriguez-Pinella E, Frias JL. Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. Am J Med Genet. 2001;99:261–269

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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