Gorlin综合征的临床表现

目的 探讨Gorlin综合征患者的临床及影像学表现形式.方法 回顾性总结2000～2011年期间诊治的9例Gorlin综合征患者,就其临床及影像学表现进行分析归纳.结果 患者最初症状均表现为颌骨膨隆,其他症状有皮肤多发痣4例(44.4％),掌足陷凹2例(22.2％),脊柱肋骨畸形9倒(100％),特殊面征4例(44.4％),智力低下1例(11.1％),先天性唇裂1例(11.1％),鸡胸1倒(11.1％),粉刺2例(22.2％),眶距增宽5例(55.5％),手掌或脚掌增大1例(11.1％).全景片或CT检查示9例患者均有颌骨囊性影,大多表现为多发性;胸片检查示分叉肋5例,脊柱弯曲6例,心脏改变1例;脑部CT示大脑镰和小脑幕钙化6倒.结论 Gorlin综合征患者临床及影像学表现形式多样,多发性牙源性角化囊性瘤是其重要也是最先出现的临床表现之一.

Clinical manifestations of Gorlin syndrome

OBJECTIVE To explore the clinical and radiologic manifestations of Gorlin syndrome. METHODS The clinical and radiologic manifestations of 9 cases （5 male and 4 female; mean age 37.3 years old）of Gorlin syndrome from 2000 to 2011 were retrospectively analyzed. RESULTS The initial symptom of 9 cases was jaw swelling, which posteroperative pathological diagnosis was keratocystic odontogenic tumor. The other symptoms included nevi or basal cell carcinoma in 4 cases（44.4%）, palmar/plantar pits in 2 cases（22.2%）, spine and ribs malformations in 9 cases（100%）, peculiar faces in 4 cases（44.4%）, mental retardation in one case（11.1%）, congenital cleft lip in one case（11.1%）, pectus carinatum in 1 case（11.1%）, acne in 2 cases（22.2%）, orbital hypertelorism in 5 cases（55.5%）, and palmar/plantar increment in 1 case（11.1%）. Panoramic or CT showed all of 9 cases have cystic lesions in jaw bones, 8 of which were multiple cystic lesions. In chest radiograph, there were 5 cases of bifid ribs, 6 cases of spine anomaly, 1 case of heart change. There were 6 cases of calcified falx cerebri and bridged sella in brain CT scan. CONCLUSIONGorlin syndrome can show various clinical manifestations and mutiple keratocystic odontogenic tumor is one of the important clinical features.