Gundlach K K, Kiehn M
J Maxillofac Surg. 1979 Nov;7(4):299-307. doi: 10.1016/s0301-0503(79)80055-7.
This paper is based on our experience with the Gorlin-Goltz syndrome and on data from 14 patients of the Nordwestdeutsche Kieferklinik in whom this disorder was detected, treated and followed up. A clinical concept has been produced, with a diagnostic check list including a genetic and a dermatological routine work up as well as a radiological survey of the jaws and skeleton. Whenever multiple basal cell carcinomas plus the typical jaw lesions are found in a patient, the diagnosis is easy. A minimum diagnostic criterion is the combination of either the skin tumours or multiple odontogenic keratocysts plus a positive family history for this disorder, bifid ribs, lamellar calcification of the falx cerebri or any one of the skeletal abnormalities typical of this syndrome. All those in whom this disorder is diagnosed or suspected should be followed up for the rest of their lives. The family should be examined and genetic counselling should be offered.
本文基于我们对戈林-戈尔茨综合征的经验以及来自西北德国口腔颌面外科诊所14例被诊断、治疗和随访的该疾病患者的数据。我们提出了一个临床概念，包括一份诊断检查表，其中有基因和皮肤科常规检查以及颌骨和骨骼的放射学检查。当在患者身上发现多个基底细胞癌加上典型的颌骨病变时，诊断很容易。最低诊断标准是皮肤肿瘤或多个牙源性角化囊肿加上该疾病的阳性家族史、肋骨分叉、大脑镰层状钙化或该综合征典型的任何一种骨骼异常。所有被诊断或怀疑患有该疾病的人都应终生随访。应对其家族进行检查并提供遗传咨询。
