儿童口腔颅颌面罕见畸形Williams-Beuren综合征的研究进展  

Children with Williams-Beuren syndrome associated with cranial and maxillofacial deformity

作　　者：李婷[1] 杨学财[1] 王俊伟 Li Ting;Yang Xue-cai;Wang Junwei(Cleft Lip and Palate Center,Dept.of Oral and Maxillofacial Surgery,Women and Children’s Hospital,Qingdao University,Qingdao 266000,China)

机构地区：[1]青岛大学附属妇女儿童医院口腔颌面外科唇腭裂中心,青岛266000

出　　处：《国际口腔医学杂志》2023年第1期108-113,共6页International Journal of Stomatology

摘　　要：Williams-Beuren综合征(WBS,OMIM 194050)是一种与罕见的口腔颅颌面畸形相关的多系统发育异常综合征。该病与7q11.23区域包括弹性蛋白基因在内的部分缺失有关,发病率为1/7500~1/20000,在世界范围内各种族的男女比例相当。常见临床表现为典型的口腔颅颌面部异常、心血管疾病、智力障碍、认知受限、高钙血症等。目前,临床诊断标准对WBS中度适用,还需结合基因检查来确诊。WBS是一种多系统综合性障碍疾病,因此需要多学科协作治疗,主要有医学监测、药物、外科手术、语音语言和行为干预的综合性治疗。由于其常发病于婴幼儿和儿童期,因此本文就儿童WBS的概述、临床表现、诊断和治疗进行综述,以提高医务人员对该综合征的认识。Williams-Beuren syndrome(WBS,OMIM 194050)is a rare and multi-system developmental disease associated with cranial and maxillofacial deformity.It is associated with the partial loss of the 7q11.23 region,including the encoded elastin gene.WBS affects about 1 in 7500 to 1 in 20000 live births,with equal numbers of boys and girls being affected,in all ethnic groups around the world.The common clinical manifestations include typical craniofacial abnormalities,cardiovascular diseases,mental retardation,cognitive deficiency,hypercalcemia,and so on.Although clinical diagnostic criteria are available for WBS,the confirming diagnosis requires rapid and accurate gene detection.WBS is a rare multi-system developmental disease and thus requires multi-disciplinary collaborative treatment,mainly including medical monitoring,drug and surgery treatment,and speech language and behavioral intervention.Given that WBS usually occurs in infants and young children,this article reviews the overview,clinical manifestations,diagnosis,and treatment of WBS in children to improve the understanding of medical staff regarding this condition.

关 键 词：Williams-Beuren综合征 诊断 治疗 

分 类 号：R782[医药卫生—口腔医学]