Increased heritability of certain types of anorectal malformations

Journal of Pediatric Surgery

Volumn 42, Issue 1, 2007, Pages 124-128

  Falcone Jr , Richard A ^a,b   Levitt, Marc A ^a,b   Peña, Alberto ^a,b   Bates, Michael ^a,b  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Anorectal malformation; Genetics; Imperforate anus

Indexed keywords

ANORECTAL MALFORMATION; ARTICLE; CONGENITAL MALFORMATION; CONTROLLED STUDY; DATA BASE; DUODENUM DISEASE; ESOPHAGUS MALFORMATION; FAMILY HISTORY; FEMALE; FISTULA; GENETIC DISORDER; GYNECOLOGIC DISEASE; HEMATOLOGIC DISEASE; HERITABILITY; HUMAN; KIDNEY MALFORMATION; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SPINE MALFORMATION;

ANAL CANAL; DATABASES; DIGESTIVE SYSTEM ABNORMALITIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INCIDENCE; MALE; OHIO; RECTUM;

EID: 33845920320     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2006.09.012     Document Type: Article

References (21)

1. Anderson R.C., and Reed S.C. The likelihood of recurrence of congenital malformations. J Lancet 74 5 (1954) 175-176
2. Boocock G.R., and Donnai D. Anorectal malformation: familial aspects and associated anomalies. Arch Dis Child 62 6 (1987) 576-579
3. Kubiak R., and Upadhyay V. Isolated imperforate anus in monozygotic twins: case report and implications. J Pediatr Surg 40 3 (2005) E1-E4
4. Kohlhase J., Wischermann A., Reichenbach H., et al. Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks syndrome. Nat Genet 18 1 (1998) 81-83
5. Townes P.L., and Brocks E.R. Hereditary syndrome of imperforate anus with hand, foot, and ear anomalies. J Pediatr 81 2 (1972) 321-326
6. Currarino G., Coln D., and Votteler T. Triad of anorectal, sacral, and presacral anomalies. AJR Am J Roentgenol 137 2 (1981) 395-398
7. Ross A.J., Ruiz-Perez V., Wang Y., et al. A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis. Nat Genet 20 4 (1998) 358-361
8. Böse J., Grotewold L., and Ruther U. Pallister-Hall syndrome phenotype in mice mutant for Gli3. Hum Mol Genet 11 9 (2002) 1129-1135
9. Hall J.G., Pallister P.D., Clarren S.K., et al. Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly-a new syndrome? Part I: Clinical, causal, and pathogenetic considerations. Am J Med Genet 7 1 (1980) 47-74
10. Torres R., Levitt M.A., Tovilla J.M., et al. Anorectal malformations and Down's syndrome. J Pediatr Surg 33 2 (1998) 194-197
11. Peña A. Anorectal malformations. Semin Pediatr Surg 4 1 (1995) 35-47
12. Cuschieri A. Descriptive epidemiology of isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet 103 3 (2001) 207-215
13. Searle A.G. The genetics and morphology of two 'luxoid' mutants in the house mouse. Genet Res 5 (1964) 171-197
14. Kluth D., Lambrecht W., Reich P., et al. SD-mice-an animal model for complex anorectal malformations. Eur J Pediatr Surg 1 3 (1991) 183-188
15. van der Putte S.C.J., and Neeteson F.A. The pathogenesis of hereditary congenital malformations of the anorectum in the pig. Acta Morphol Neerl Scand 22 1 (1984) 17-40
16. Vianna M.L., and Tobias K.M. Atresia ani in the dog: a retrospective study. J Am Anim Hosp Assoc 41 5 (2005) 317-322
17. Cassini P., Montironi A., Botti S., et al. Genetic analysis of anal atresia in pigs: evidence for segregation at two main loci. Mamm Genome 16 3 (2005) 164-170
18. Bates M.D. Development of the enteric nervous system. Clin Perinatol 29 1 (2002) 97-114
19. Kapur R.P. Hirschsprung disease and other enteric dysganglionoses. Crit Rev Clin Lab Sci 36 3 (1999) 225-273
20. Tam P.K.H., and Garcia-Barcelo M. Molecular genetics of Hirschsprung's disease. Semin Pediatr Surg 13 4 (2004) 236-248
21. Martín M.G., Silveira T.R., Grand R., et al. Genetics of gastrointestinal and hepatobiliary disorders: Working Group Report of the First World Congress of Pediatric Gastroenterology, Hepatology, and Nutrition. J Pediatr Gastroenterol Nutr 35 Suppl 2 (2002) S118-S1 127