Van Maldergem综合征研究进展  

Van Maldergem syndrome:a review of the literature

作　　者：郭佩佩 潘博 蒋海越 Guo Peipei;Pan Bo;Jiang Haiyue(Seventh Department of Plastic Surgery,Plastic Surgery Hospital,Chinese Academy of Medical Sciences,Peking Union Medical College,Beijing 100144,China)

机构地区：[1]中国医学科学院北京协和医学院整形外科医院整形七科,100144

出　　处：《中华整形外科杂志》2020年第5期577-581,共5页Chinese Journal of Plastic Surgery

基　　金：中国医学科学院医学与健康科技创新工程项目(2016-I2M-1-002);国家自然科学基金(81571863,81401608)。

摘　　要：Van Maldergem综合征由编码原钙黏蛋白家族的成员DCHS1或FAT4的基因突变引起,是一种罕见的以生长迟缓、智力发育障碍、颅面畸形以及四肢和骨骼发育不良为特点的常染色体隐性遗传性疾病,诊断主要依靠临床表现及影像学特征。目前对于Van Maldergem综合征的报道较少,对此病的认识尚存不足。作者对该综合征的临床特征、诊断及鉴别诊断、分子遗传学及治疗等方面进行了综述,以提高对该疾病的认知。Van Maldergem syndrome is caused by the mutation in genes encoding DCHS1 or FAT4,the members of protocadherin family.The disorder is a rare autosomal recessively inherited disease characterized by growth retardation,intellectual disability,craniofacial malformations and bone dysplasia.Its diagnosis mainly depends on clinical features and imaging findings.At present,only a few patients with Van Maldergem syndrome have been reported and the knowledge of this disease is still insufficient.This review summarizes the clinical manifestations,diagnosis,differential diagnosis,molecular genetical research and treatment about the Van Maldergem syndrome,which is significance for the comprehensive understanding of this disease.

关 键 词：Van Maldergem综合征 智力障碍 颅面畸形 

分 类 号：R725.9[医药卫生—儿科]