Järvinen H J, Peltokallio P, Landtman M, Wolf J
Br J Surg. 1982 Dec;69(12):718-21. doi: 10.1002/bjs.1800691211.
Extracolonic lesions compatible with Gardner's syndrome were studied in 34 patients from 17 unrelated families with established familial adenomatosis coli. Thirteen patients (38 per cent) had the complete syndrome and 12 patients (35 per cent) a bisymptomatic syndrome. Bone lesions were found in 79 per cent of the patients examined, epidermoid cysts in 35 per cent, desmoid tumours in 18 per cent and dental changes in 18 per cent. One extracolonic manifestation of the triad in at least one affected family member was detected in 14 families (82 per cent). The findings provide additional evidence for the view that all cases of familial adenomatosis coli belong to a single genetic entity. The usually innocent extracolonic signs of Gardner's syndrome severe as valuable markers for early detection of asymptomatic family members at risk. Panoramic X-ray of the jaws seems to be especially suitable for this purpose.
对来自17个无亲缘关系且确诊为家族性腺瘤性息肉病的家庭的34例患者，研究了与加德纳综合征相符的结肠外病变。13例患者（38%）患有完全型综合征，12例患者（35%）患有双症状综合征。在接受检查的患者中，79%发现有骨病变，35%有表皮样囊肿，18%有硬纤维瘤，18%有牙齿改变。在14个家庭（82%）中，至少有一名受影响家庭成员出现三联征的一种结肠外表现。这些发现为家族性腺瘤性息肉病所有病例都属于单一遗传实体这一观点提供了更多证据。加德纳综合征通常无害的结肠外体征，作为早期发现有风险的无症状家庭成员的重要标志物，变得十分重要。颌骨全景X线检查似乎特别适合于此目的。
