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Anorectal malformations and Down's syndrome

R Torres1, M A Levitt, J M Tovilla

  • 1Department of Surgery Long Island Jewish Medical Center, New Hyde Park, NY 11040, USA.

Journal of Pediatric Surgery
|March 14, 1998
PubMed
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Patients with Down syndrome (DS) and anorectal malformations (ARM) often have a specific, benign defect: imperforate anus without fistula. DS does not negatively impact the functional prognosis for ARM repair.

Area of Science:

  • Pediatric Surgery
  • Genetics
  • Developmental Biology

Background:

  • Anorectal malformations (ARM) are frequently associated with Down syndrome (DS).
  • The specific characteristics and prognostic implications of ARM in patients with DS require clarification.

Purpose of the Study:

  • To identify specific anorectal defect characteristics in patients with Down syndrome.
  • To evaluate the impact of Down syndrome on the functional prognosis of anorectal malformations.

Main Methods:

  • Retrospective analysis of 987 patients with ARM.
  • Comparison of 20 patients with DS and ARM to 34 patients with ARM but without DS.
  • All patients underwent surgical repair via posterior sagittal approach.

Main Results:

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  • 95% of patients with DS and ARM had imperforate anus without fistula, a specific benign defect.
  • This defect occurred in 5% of all ARM patients.
  • Both groups showed good functional prognosis, with 80-96% achieving voluntary bowel movements and 100% urinary continence.

Conclusions:

  • The association between Down syndrome and imperforate anus without fistula is significant.
  • This specific benign ARM can be predicted in most patients with DS.
  • Down syndrome should not contraindicate surgical repair of imperforate anus in ARM patients.