Imperforate anus

Imperforate anus - Anorectal malformations
Other namesAnorectal malformations
An X-ray showing imperforate anus
SpecialtyMedical genetics Edit this on Wikidata

An imperforate anus or anorectal malformations (ARMs) are birth defects in which the rectum is malformed. ARMs are a spectrum of different congenital anomalies which vary from fairly minor lesions to complex anomalies.[1] The cause of ARMs is unknown; the genetic basis of these anomalies is very complex because of their anatomical variability. In 8% of patients, genetic factors are clearly associated with ARMs.[2] Anorectal malformation in Currarino syndrome represents the only association for which the gene HLXB9 has been identified.[clarification needed][1][3]

  1. ^ a b Nixon, H. H. (14 November 2006). Holschneider, Alexander Matthias; Hutson, John M. (eds.). Anorectal Malformations in Children. Vol. 65. Springer. p. 819. doi:10.1007/978-3-540-31751-7. ISBN 978-3-540-31750-0. PMC 1644586. Retrieved 15 September 2013. {{cite book}}: |journal= ignored (help)
  2. ^ Moore, Samuel W (14 November 2006). "Genetics, Pathogenesis and Epidemiology of Anorectal Malformations and Caudal Regression Syndrome". In Holschneider, Alexander Matthias; Hutson, John M. (eds.). Anorectal Malformations in Children. Springer. pp. 31–48. doi:10.1007/978-3-540-31751-7_3. ISBN 978-3-540-31750-0.
  3. ^ Belloni, E; Martucciello, G; Verderio, D; Ponti, E; Seri, M; Jasonni, V; Torre, M; Ferrari, M; Tsui, LC; Scherer, SW (January 2000). "Involvement of the HLXB9 homeobox gene in Currarino syndrome". American Journal of Human Genetics. 66 (1): 312–9. doi:10.1086/302723. PMC 1288336. PMID 10631160.

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