Abstract
Incidence ∼1 in 5,000 More common in Down’s syndrome and Cat-eye syndrome. Male > female (60:40) Second child involvement rare (<1%)
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Notes
- 1.
Cat-eye syndrome – colobomata and ARM typically due to aneuploidy (e.g., trisomy of Chromosome 22).
- 2.
Cloaca – Latin “sewer.”
- 3.
Sonic Hedgehog (SHH) – Blue computer game character popular in 1990s when gene was named.
- 4.
BMP4 (bone morphogenetic protein) – part of TGF-β superfamily.
- 5.
HOX – or Homeobox genes. Highly conserved genes responsible for basic patterning in embryo.
- 6.
Ettiene Louise Arthur Fallot (1850–1911) – French physician working in Marseille, described details of two cases in 1888, although many previous reports.
Further Reading
Levitt MA, Peña A (2007) Anorectal malformations. Orphanet J Rare Dis 26(2):33
Peña A, Grasshoff S, Levitt M (2007) Reoperations in anorectal malformations. J Pediat Surg 42:318–325
Levitt MA, Peña A (2005) Outcomes from the correction of anorectal malformations. Curr Opin Pediatr 17:394–401
Rintala RJ, Pakarinen MP (2008) Imperforate anus: long- and short-term outcome. Semin Pediatr Surg 17:79–89
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Sinha, C.K., Levitt, M.A., Peña, A. (2010). Anorectal Malformations. In: Sinha, C., Davenport, M. (eds) Handbook of Pediatric Surgery. Springer, London. https://doi.org/10.1007/978-1-84882-132-3_18
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