Incomplete Gardner's syndrome with blepharoptosis as the first symptom

摘要

Gardner's syndrome (GS) is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with osseous tumors and soft-tissue tumors, such as epidermoid cysts and lipomas. An osteoma is a benign, osteogenic tumor and may be sporadic or related to GS. Here, we present a patient with a giant sino-orbital osteoma and blepharoptosis as the only symptom of incomplete GS. A 74-year-old woman, with no previous history of trauma or ophthalmic surgery, presented with a 2 years history of right blepharoptosis without diplopia. The results of slit-lamp and fundoscopic examination were normal. Computed tomography showed a giant sino-orbital osteoma. With suspicion for GS, we thoroughly examined the patient and found no soft-tissue tumors. Fifteen years ago, the patient, who had a family history of colonic polyposis, underwent right colectomy and chemotherapy for adenocarcinoma. We report a case of incomplete GS with blepharoptosis as the first symptom.