Case report of unusual presentation of marfanoid features in a 13-year-old boy with Gardner's syndrome

Abstract

Gardner’s syndrome is a rare syndrome with autosomal dominant inheritance composed of a group of colonic and extracolonic disorders. Colonic disorders include intestinal polyps mainly adenomas, and extracolonic disorders include desmoid tumors, epidermoid cysts, and osteomas. Here, we present a 13-year-old boy, who was confirmed with Gardner’s syndrome; but, when we did physical examination, he revealed unusual extracolonic findings similar to that in Marfan syndrome, raising suspicion that the genetic mutation on the long arm of chromosome 5, which is responsible for Gardner’s syndrome, may also lead to some marfanoid abnormalities. Patients with Gardner’s syndrome may present at any age from early months of life up to late years. They have high probability of developing colonic cancer, because of colonic polyps that undergo malignant transformation, but, fortunately, colonic polyps show up late in life beyond other extracolonic disorders such as bone osteomas and desmoid tumors. This feature gives the chance for early diagnosis of patients with Gardner’s syndrome and allows undergoing early prophylactic surgical resection of polyps before transformation into malignant tumors.