Peters P E, Gäbler J, Lingemann B, Ritter W
Rofo. 1982 Feb;136(2):133-7. doi: 10.1055/s-2008-1056014.
Gardner's syndrome, completely expressed, consists of a trio of familial polyposis of the colon, osteomas and mesenchymal tumours of the skin. Inheritence is autosomal dominant. In many patients with familial polyposis of the colon, only mesenchymal skin tumours or osteomas can be demonstrated. It is therefore possible that Gardner's syndrome and familial polyposis represent two extremities of a single disease which is characterised by marked variability in the expressivity of the gene. Gardner's syndrome has been considered a rare condition occurring in only about 8% of patients with familial polyposis. Amongst the 20 patients with colonic polyposis from eleven families, mesenchymal and/or osseous lesions were found in seventeen (85%). Osteomas of the mandible were shown particularly frequently by orthopantomography. Since polyposis of the colon tends to remain symptomless for many years, the finding of osteomas in the facial skeleton, or recurrent skin tumours in young patients, should lead to further investigation.
完全表现出来的加德纳综合征由结肠家族性息肉病、骨瘤和皮肤间叶组织肿瘤三者组成。其遗传方式为常染色体显性遗传。在许多结肠家族性息肉病患者中，仅能证实存在皮肤间叶组织肿瘤或骨瘤。因此，加德纳综合征和家族性息肉病可能代表了单一疾病的两个极端情况，该疾病的特征是基因表达具有显著变异性。加德纳综合征一直被认为是一种罕见病症，仅在约8%的家族性息肉病患者中出现。在来自11个家族的20例结肠息肉病患者中，17例（85%）发现了间叶组织和/或骨病变。全景曲面断层摄影术特别频繁地显示出下颌骨骨瘤。由于结肠息肉病多年来往往没有症状，因此在面部骨骼中发现骨瘤，或在年轻患者中发现复发性皮肤肿瘤，都应促使进行进一步检查。
