Gardner syndrome: When cervical-facial osteomas reveal the tip of the iceberg: A case report and literature review

Abstract

Gardner syndrome is a subtype of familial adenomatous polyposis (FAP) characterized by colonic manifestations, multiple skull osteomas, dental abnormalities, benign soft tissue tumors, and a high risk of development of both colorectal cancer and papillary thyroid carcinoma. Many patients are incidentally diagnosed when presenting with craniofacial tumefactions related to osteomas. In such cases, further exploration of family history and other clinical manifestations often reveals positive findings. We report the case of a 34-year-old woman who presented with craniofacial tumefactions and recurrent orbital discomfort. A cranio-facial CT-scan revealed multiple osteomas, including one affecting the orbital region. Investigation of her family history, along with her clinical history, confirmed the presence of Gardner syndrome in her father and siblings, with colonic polyposis- under ongoing surveillance.