Head and neck presentation of Gardner Syndrome: A pediatric case series

Gardner Syndrome (GS), now known to be a variant of familial adenomatous polyposis (FAP), is a rare but serious genetic syndrome characterized by colonic polyposis, osteomas and other soft tissue tumors [1]. The WHO criteria for diagnosis of Gardner Syndrome are any of the following: 1) 100 or more colorectal polyps, 2) APC gene germline mutation, or 3) family history of FAP and at least one osteoma, epidermoid cyst, or desmoid tumor [2]. GS also has more prominent extra-colonic manifestations than other variants of FAP [3].

Source: International Journal of Pediatric Otorhinolaryngology - April 25, 2018 Category: ENT & OMF Authors: Dawn Goral, Julie Highland, Mark A. Lovell, Kenny H. Chan Tags: Case Report Source Type: research