Gardner syndrome

Etiology:

AD – mutation in adenomatous polyposis coli (APC) gene – located on chromosome 5q21

Clinical:

Triad:

  • Potential malignant colorectal polyposis
  • Skeletal abnormality – multiple osteoma
  • Multiple impacted teeth, supernumerary teeth and odontomas
Gardner syndrome clinical presentation

Diagnosis:

  • Blood test – APC gene mutation
  • Osteomas and impacted teeth found on radiograph – do lower GIT endoscopy for colon polyps

Management:

  • Alleviate symptoms
  • Surgical excision of osteomas

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