title: Gardner syndrome with no clinical family history.
abstract: 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.
authors: São Leopoldo Mandic Institute and Research Center, Campinas, Brazil. carolina_barcellos@hotmail.com
authors: Carolina Amália Barcellos
authors: CA
authors: Silva
authors: Paulo de Camargo
authors: Pde C
authors: Moraes
authors: Cristiane
authors: C
authors: Furuse
authors: José Luiz
authors: JL
authors: Junqueira
authors: Luiz Alexandre
authors: LA
authors: Thomaz
authors: Vera Cavalcanti
authors: VC
authors: de Araújo
mesh_terms: D000328:Adult; D001706:Biopsy; D001859:Bone Neoplasms / Q000175:diagnosis; D003113:Colonoscopy; D003937:Diagnosis, Differential; D005260:Female; D005736:Gardner Syndrome / Q000175:diagnosis*; D006258:Head and Neck Neoplasms / Q000175:diagnosis; D006801:Humans; D010016:Osteoma / Q000175:diagnosis; D012812:Sigmoidoscopy; D014057:Tomography, X-Ray Computed