A genetic model for cloacal exstrophy, the extreme cloacal malformation

Journal of Pediatric Urology

Volumn 3, Issue 3, 2007, Pages 214-217

  Robin, Nathaniel H ^a,b   Sathienkijkanchai, Achara ^a   Anthony Herndon, C D ^b,c  

^a UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^b University of Alabama at Birmingham   (United States)

^c University of Alabama at Birmingham   (United States)

Author keywords

Cloacal exstrophy; Disorganization; Genetic

Indexed keywords

AMNIOCENTESIS; ANUS ATRESIA; ARTICLE; BRAIN SURGERY; CASE REPORT; CHORDEE; CHROMOSOME ANALYSIS; CLOACA EXSTROPHY; COMPUTER ASSISTED TOMOGRAPHY; CRYPTORCHISM; ECHOCARDIOGRAPHY; ECHOGRAPHY; EPISPADIAS; GENETIC MODEL; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDROCEPHALUS; INFANT; INGUINAL HERNIA; INTESTINE MALFORMATION; KARYOTYPE 46,XY; LEG MALFORMATION; MALE; MENINGOMYELOCELE; MULTIPLE MALFORMATION SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; OMPHALOCELE; PHENOTYPE; PRIORITY JOURNAL; SACRUM AGENESIS; TORTICOLLIS;

EID: 34247563438     PISSN: 14775131     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpurol.2006.08.003     Document Type: Article

References (16)

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