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The Currarino triad: the variable expression.

Pieter J Emans1, Gauke Kootstra, Carlo L M Marcelis

  • 1Department of Pediatric Surgery, University Hospital, 6202 AZ Maastricht, The Netherlands.

Journal of Pediatric Surgery
|August 6, 2005
PubMed
Summary
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The Currarino triad, a hereditary disorder, shows highly variable symptoms from asymptomatic to severe. A sacral bone defect can indicate screening for this genetic condition.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Medical Diagnostics

Background:

  • The Currarino triad is a rare hereditary disorder.
  • It is linked to the 7q36 chromosomal region.
  • Characterized by anorectal malformation, sacrococcygeal defect, and presacral mass.

Purpose of the Study:

  • To document the variable clinical presentation of the Currarino triad.
  • To provide clinical guidelines for suspected cases.
  • To highlight diagnostic challenges due to variable gene expression.

Main Methods:

  • Retrospective chart review of 5 families.
  • Analysis of symptoms and associated anomalies in affected individuals.
  • Evaluation of genetic carriers for phenotypic expression.

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Main Results:

  • Fifteen patients exhibited Currarino-associated anomalies.
  • Anorectal malformation (9), presacral mass (9), and sacral bone defect (15) were common.
  • Symptomatic patients (12) predominantly presented with constipation; others had bladder dysfunction or gait issues.

Conclusions:

  • Phenotypic expression of Currarino triad gene mutations varies widely, from asymptomatic to complete triad.
  • Crescent-shaped sacral bone defects may serve as an initial screening marker.
  • DNA screening is essential for definitive exclusion due to variable genetic penetrance.