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Anorectal malformations and Down syndrome.

J Zlotogora1, K Abu-Dalu, O Lernau

  • 1Department of Human Genetics, Hadassah Hospital Ein Karem, Hebrew University Hadassah Medical School, Jerusalem, Israel.

American Journal of Medical Genetics
|November 1, 1989
PubMed
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Infants with Down syndrome (DS) have a significantly higher risk of imperforate anus. This study found a 2.2% incidence of imperforate anus in infants with DS, highlighting a critical association for early diagnosis and intervention.

Area of Science:

  • Medical Genetics
  • Pediatric Surgery
  • Epidemiology

Background:

  • Down syndrome (DS) is a genetic disorder associated with various congenital anomalies.
  • Imperforate anus is a congenital malformation of the anorectal region.
  • Understanding the co-occurrence of these conditions is crucial for clinical management.

Purpose of the Study:

  • To determine the incidence of imperforate anus in infants with Down syndrome.
  • To investigate the association between Down syndrome and imperforate anus in a specific population.

Main Methods:

  • Retrospective analysis of liveborn infant data from 1980 to 1986 in Jerusalem.
  • Inclusion criteria: diagnosis of Down syndrome or imperforate anus.
  • Calculation of incidence rates and co-occurrence.

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Main Results:

  • A total of 64,870 liveborn infants were analyzed.
  • 89 infants were diagnosed with Down syndrome; 42 with imperforate anus.
  • Two infants presented with both Down syndrome and imperforate anus, yielding a 2.2% incidence of imperforate anus among infants with Down syndrome.

Conclusions:

  • There is a notably high incidence of imperforate anus in infants with Down syndrome.
  • This finding underscores the importance of screening for anorectal malformations in newborns diagnosed with Down syndrome.
  • Early detection and surgical intervention can improve outcomes for affected children.