Open AccessA Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations
Author(s) -
Zinan Lin,
Minjuan Zhu,
Hongwei Deng
Publication year - 2021
Publication title -
risk management and healthcare policy
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.828
H-Index - 22
ISSN - 1179-1594
DOI - 10.2147/rmhp.s307290
Subject(s) - ectopia lentis , ophthalmology , medicine , glaucoma , gonioscopy , intraocular pressure , contact lens , fundus (uterus) , compound heterozygosity , marfan syndrome , mutation , genetics , surgery , gene , biology
Weill-Marchesani syndrome (WMS) is an autosomal inherited connective tissue disease. Clinical manifestations include microspherophakia (MSP), high myopia, ectopia lentis, open-angle glaucoma, short stature, short fingers, joint stiffness, and (occasionally) cardiovascular defects. At present, a total of four pathogenic gene loci related to WMS have been found: ADAMTS10, ADAMTS17, FBN1, and LTBP2.