Gardner syndrome with no clinical family history

Gardner syndrome, a variant of familial adenomatous polyposis, is a hereditary disorder inherited as an autosomal dominant with high penetrance and variable expression that is caused by a mutation of the adenomatous polyposis coli gene. It is characterized by gastrointestinal polyps associated with multiple osteomas, dental anomalies, skin and soft tissue tumors, and congenital hypertrophy of the retinal pigment epithelium. Early diagnosis of Gardner syndrome is crucial and may be life saving because the polyps usually undergo malignant change by the fourth decade of life. The extraintestinal manifestations frequently precede gastrointestinal symptoms; consequently, the dentist may play an important role in the diagnosis of this syndrome. The authors report a case of Gardner syndrome with no clinical family history that was diagnosed by the dentist based on oral and maxillofacial findings.