Radiological Recognition of Gardner's Syndrome: A Case of Desmoid Tumor, Osteomas, and Colonic Polyposis

Abstract Gardner's syndrome (GS) is a rare autosomal dominant familial polyposis syndrome characterized by a combination of gastrointestinal and extracolonic manifestations, which include multiple colonic polyps, osteomas, and soft tissue tumors such as desmoid tumors. We report a rare case of a 24-year-old woman who presented with abdominal pain and a palpable abdominal mass. Imaging revealed a mesenteric desmoid tumor, multiple osteomas in the skull and paranasal sinuses, and supernumerary incisors, raising suspicion of GS. Virtual computed tomography colonoscopy and endoscopy showed extensive colonic and duodenal polyposis, and histopathology confirmed adenomatous polyps with dysplasia. The patient underwent surgical resection of the jejunal desmoid tumor and a total proctocolectomy with ileoanal pouch anastomosis. This case highlights the pivotal role of multimodality imaging in the early recognition of GS and its extracolonic manifestations, enabling timely diagnosis and management.