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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.

A Pedigree Report of a Rare Case of Weill–Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations