Yu Dan, Ng Cw Benjamin, Zhu Huiyong, Liu Jianhua, Lin Yi
M.S., D.D.S., Attending doctor, Department of Oral and Maxillofacial Surgery, First Affiliated Hospital, College of Medicine, Zhejiang University. 79# Qingchun Road, Hangzhou 310003, People's Republic of China.
B.D.S., Resident, Department of Oral and Maxillofacial Surgery, National Dental Centre Singapore. Second Hospital Avenue, 168938, Singapore.
Med Sci (Paris). 2018 Oct;34 Focus issue F1:20-25. doi: 10.1051/medsci/201834f104. Epub 2018 Nov 7.
Gardner's syndrome (GS) is an autosomal dominant disease characterized by the presence of familial adenomatous polyposis (FAP) as well as extraintestinal manifestations such as osteomas, dental anomalies, epidermoid cysts and ocular abnormalities. These intestinal polyps carry a 100% risk of malignant change, so early diagnosis is crucial. As craniofacial osteomas and dental anomalies of GS usually precede gastrointestinal symptoms, otolaryngologists, oral surgeons and dentists play an important role in the diagnosis of GS. GS is extensively reported in literature in the Caucasian race but not in the Mongoloid race. We report a case of a 22-year-old patient with a manifestation of three features of GS - multiple osteomas, soft tissue tumors and dental anomalies in the craniofacial region, with no intestinal polyps at the time of reporting. A family pedigree with our patient as the proband was constructed and revealed 3 consecutive generations in his lineage with GS.
加德纳综合征（GS）是一种常染色体显性疾病，其特征为存在家族性腺瘤性息肉病（FAP）以及诸如骨瘤、牙齿异常、表皮样囊肿和眼部异常等肠外表现。这些肠道息肉发生恶变的风险为100%，因此早期诊断至关重要。由于GS的颅面骨瘤和牙齿异常通常先于胃肠道症状出现，耳鼻喉科医生、口腔外科医生和牙医在GS的诊断中发挥着重要作用。GS在高加索人种的文献中有广泛报道，但在蒙古人种中未见报道。我们报告一例22岁患者，其表现出GS的三个特征——颅面部多发骨瘤、软组织肿瘤和牙齿异常，在报告时未发现肠道息肉。以我们的患者为先证者构建了家系图谱，结果显示其家族谱系中有连续三代人患有GS。
