TY - JOUR T1 - External manifestations of Gardner’s syndrome as the presenting clinical entity JF - BMJ Case Reports DO - 10.1136/bcr-2013-200293 VL - 2014 SP - bcr2013200293 AU - Deepak Agrawal AU - Vilas Newaskar AU - Sanket Shrivastava AU - Prathibha Anand Nayak Y1 - 2014/08/19 UR - http://casereports.bmj.com/content/2014/bcr-2013-200293.abstract N2 - Gardner's syndrome is an autosomal dominant disease characterised by the presence of colonic polyposis, osteomas and a multitude of soft tissue tumours. Pathological features such as osteomas of the mandible, skull and facial skeleton are unaesthetic as well as incapacitating. We present the case of a 22-year-old man with pain and discharge from the left eye and a firm swelling in the left infraorbital region leading to proptosis of the left eye. A detailed examination of the patient led to the presence of a large osteoma in the left orbital region, multiple cystic lesion, corneal opacity and parapapillary atrophy in the left eye. Radiography revealed the presence of multiple unerupted supernumerary teeth and osteomas. Colonoscopic findings showed the presence of multiple polyps. Thus, external manifestations of the patient's facial region led to the establishment of the diagnosis of Gardner's syndrome. The importance of our case highlights the necessity of maintaining a high vigilance with regard to the occurrence of such an entity. ER -