特纳综合征患者颌面部特征的临床意义  

Clinical value of maxillofacial characteristics in Turner syndrome patients

作　　者：梁思宇 陈适[2] 王诗蕊 潘周娴 朱佳伟 朱惠娟[2] 潘慧[2] LIANG Si-yu;CHEN Shi;WANG Shi-rui;PAN Zhou-xian;ZHU Jia-wei;ZHU Hui-juan;PAN Hui(Eight-year Program of Clinical Medicine,Peking Union Medical College Hospital,CAMS&PUMC,Beijing 100730,China;Department of Endocrinology,Endocrine Key Laboratory of Ministry of Health,Peking Union Medical College Hospital,CAMS&PUMC,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院,北京100730 [2]中国医学科学院北京协和医学院北京协和医院内分泌科卫生部内分泌重点实验室,北京100730

出　　处：《基础医学与临床》2020年第2期248-252,共5页Basic and Clinical Medicine

基　　金：北京协和医学院大学生创新训练计划(2018zlgc0647,2018zlgc0621);北京协和医学院青年教师培训项目(2014zlgc0721);北京协和医学院教学改革项目(2014zlgc0141)

摘　　要：特纳综合征患者具有特征性的颌面部异常,与多种疾病相关,包括传导性听力丧失、喂养困难、睡眠呼吸暂停和发声异常等。特纳综合征颌面部特征可以通过头影测量学进行定量研究,还可以利用颌面部特征进行产前诊断。这些颌面部异常可能与X染色体上影响第一咽弓发育的基因相关,如SHOX;还可能与X染色体上影响组蛋白修饰的基因相关,如HDAC8。长期生长激素治疗对特纳综合征患者颅面发育具有改善作用,对下颌支的影响最明显,然而生长激素治疗不能使颌面部异常完全正常化。因其诊断价值、相关疾病风险和治疗可能,特纳综合征患者的异常颌面部特征应该引起更多的关注。Turner syndrome has characteristic maxillofacial abnormalities associated with a variety of diseases,including conductive hearing loss,feeding difficulties,sleep apnea,and vocal abnormalities.The maxillofacial characters of Turner syndrome can be quantitatively studied by cephalometric study.Prenatal diagnosis can also be performed by maxillofacial abnormalities.These abnormalities may be related to genes affecting the development of the first pharyngeal arch on the X chromosome,such as SHOX;may also be associated with genes on the X chromosome that affect histone modifications,such as HDAC8.Long-term growth hormone therapy has an enhanced effect on craniofacial development in patients with Turner syndrome,and a significant improvement on mandibular growth.However,growth hormone therapy can not completely normalize maxillofacial abnormalities.Maxillofacial abnormalities in patients with Turner syndrome should draw more attention due to its diagnostic value,associated disease risk and treatable potential.

关 键 词：特纳综合征 颌面部 小颌 缩颌 高腭弓 

分 类 号：R725.8[医药卫生—儿科]