Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance  

作　　者：Guo-Yuan Yang Xi Huang Bing-Jie Chen Zhu-Ping Xu 

机构地区：[1]Department of Ophthalmology,West China Hospital,Sichuan University,Chengdu,Sichuan 610041,China

出　　处：《Chinese Medical Journal》2021年第11期1359-1361,共3页中华医学杂志（英文版）

摘　　要：Weill-Marchesani syndrome(WMS)is a rare connective tissue disorder characterized by brachydactyly,short stature,joint stiffness,cardiovascular abnormalities,and eye anomalies including microspherophakia,cataracts,ectopia lentis,myopia,and secondary glaucoma.Patients with incomplete WMS signs are diagnosed with Weill-Marchesani-like syndrome(WMS-like).To date,both autosomal dominant(AD)and autosomal recessive(AR)inheritance modes have been reported for WMS.Genetic heterogeneity inWMSsuggests a connection between these genes.AR and AD WMS cannot be distinguished clearly by clinical findings alone.[1]Furthermore,inter-familial as well as intra-familial clinical variability due to different fibrillin-1 gene(FBN1)mutations also exists.

关 键 词：clinical CARDIOVASCULAR CATARACT 

分 类 号：R775[医药卫生—眼科]