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[Gardner syndrome]

E Tarantino1, A Meozzi, A Villirillo

  • 1Istituto di Clinica Pediatrica, Università degli Studi, Pisa, Italia.

La Pediatria Medica E Chirurgica : Medical and Surgical Pediatrics
|September 1, 1995
PubMed
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Gardner's syndrome, a rare genetic disorder, was observed in a six-year-old girl presenting with seizures. Early molecular and prenatal diagnosis are now possible for this condition.

Area of Science:

  • Genetics
  • Pediatrics
  • Clinical Pathology

Background:

  • Gardner's syndrome is an inherited condition characterized by numerous gastrointestinal polyps and tumors.
  • It is associated with an increased risk of colorectal cancer and other neoplasms.

Observation:

  • A case of Gardner's syndrome was identified in a six-year-old girl presenting with seizures.
  • This case highlights the importance of considering rare genetic syndromes in pediatric patients with neurological symptoms.

Findings:

  • The study reviews the diagnostic features and differential diagnosis of Gardner's syndrome.
  • Current criteria for diagnosis and surveillance of affected or at-risk individuals are outlined.

Implications:

Related Experiment Videos

  • The paper emphasizes the availability of advanced diagnostic methods, including molecular, prenatal, neonatal, and preclinical diagnosis for Gardner's syndrome.
  • This facilitates earlier detection and management, potentially improving patient outcomes.