The Gardner syndrome: Need for early diagnosis

The Gardner syndrome is a triad of soft tissue tumors, bone tumors which are principally but not exclusively limited to facial bones and skull, and intestinal polyps predisposed to malignancy. The disease is due to a single pleiotropic gene and has an autosomal dominant pattern of inheritance with complete penetrance and variable expression. The first manifestations of skin tumors and bone tumors appear in the pediatric age group. They should alert the pediatrician to investigate the entire intestine for potentially malignant polyps and to initiate examinations for other members of the family. Genetic counseling is an important part of the management of this disease.