title: Gardner's syndrome: a clinical and genetic study of a family.
abstract: OBJECTIVE
  Gardner syndrome (GS) is an autosomal dominant genetic disorder with almost complete penetrance (80%) and variable expression. GS is a variant of familial adenomatous polyposis and characterized by extracolonic manifestations including osteomas and soft tissue tumors (desmoid tumors, epidermoid cysts). We describe clinical and surgical approaches in a family in which the genetic disorder was diagnosed in 3 generations.
  
  
  METHODS
  The studied family underwent clinical history and instrumental and genomic studies. Two members of this family, affected with GS, underwent surgery for skeletal osteomas.
  
  
  RESULTS
  The patients that we treated with clinical-instrumental monitoring for a period of 5 years had no major disturbances of the stomatognathic system and no clinical signs of pathology of the gastrointestinal tract, eyes, or endocrine systems.
  
  
  CONCLUSIONS
  The orofacial complex disorders are exclusively functional and esthetic, concerning primarily the stomatognathic system. We had no cases of malignant transformation of osteomatosis lesions. Clinical sequelae are manly facial eumorphy and occlusion problems of the temporomandibular joint.
authors: Department of Oral and Maxillofacial Surgery, University Magna Graecia, Catanzaro, Italy. cristofaro@unicz.it
authors: Maria Giulia
authors: MG
authors: Cristofaro
authors: Amerigo
authors: A
authors: Giudice
authors: Massimiliano
authors: M
authors: Amantea
authors: Umberto
authors: U
authors: Riccelli
authors: Mario
authors: M
authors: Giudice
mesh_terms: D018388:Codon, Terminator / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D016368:Frameshift Mutation / Q000235:genetics; D005624:Frontal Bone / Q000473:pathology; D005736:Gardner Syndrome / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods; D008297:Male; D008336:Mandibular Diseases / Q000235:genetics; D008339:Mandibular Neoplasms / Q000235:genetics; D008875:Middle Aged; D010014:Osteolysis / Q000235:genetics; D010016:Osteoma / Q000235:genetics; D010375:Pedigree; D011862:Radiography, Panoramic; D017384:Sequence Deletion / Q000235:genetics; D012888:Skull Neoplasms / Q000235:genetics; D014057:Tomography, X-Ray Computed / Q000379:methods; D014095:Tooth, Impacted / Q000235:genetics; D055815:Young Adult
chemical_list: D018388:Codon, Terminator