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Gardner's syndrome: a case report

A K Trehan1, H Osborn, S K Trehan

  • 1Department of Emergency Medicine, Lincoln Medical and Mental Health Center, Bronx, NY 10451, USA.

The Journal of Emergency Medicine
|July 1, 1995
PubMed
Summary
This summary is machine-generated.

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Gardner's syndrome (GS) is a rare genetic disorder. Early detection through osteoma surveillance and colonoscopy is crucial for managing intestinal polyposis and preventing malignant degeneration.

Area of Science:

  • Genetics
  • Oncology
  • Gastroenterology

Background:

  • Gardner's syndrome (GS) is a heritable dysplasia with intestinal, soft tissue, and bone manifestations.
  • Extra-intestinal features, like osteomas, often appear early, even in infancy.
  • GS carries a significant risk of malignant transformation in intestinal polyps.

Observation:

  • This report details a case of GS diagnosed based on clinical suspicion in an emergency department setting.
  • The patient's presentation highlighted the importance of recognizing subtle signs suggestive of GS.
  • Prompt recognition facilitated timely intervention and management.

Findings:

  • Osteomas, particularly in young patients, warrant thorough investigation for underlying Gardner's syndrome.
  • Regular endoscopic surveillance, specifically colonoscopy, is essential for monitoring intestinal polyposis.

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  • Genetic transmission necessitates screening of family members for early diagnosis and intervention.

    • Implications:

    • Early diagnosis of Gardner's syndrome through osteoma identification can prevent advanced colorectal cancer.
    • Family screening is vital due to the autosomal dominant inheritance pattern of GS.
    • Integrated management involving gastroenterology, surgery, and genetics improves patient outcomes.