Molecular Pathogenesis. Weill-Marchesani syndrome (WMS) is a genetic disorder of the connective tissue caused by pathogenic variants in four genes, ADAMTS10, ADAMTS17, LTBP2, and FBN1, which encode extracellular matrix components. ADAMS10 and ADAMTS17 belong to the ADAMTS ( disintegrin-like and metalloprotease with thrombospondin type 1 motif Weill-Marchesani syndrome, also known as Spherophakia-Brachymorphia syndrome and Mesodermal dysmorphodystrophy, is an inherited connective tissue disorder characterized by abnormalities of the lens of the eye, secondary glaucoma, short stature, brachydactyly, joint stiffness, and cardiovascular defects. [1] Weill-Marchesani syndrome (WMS), a rare connective tissue disorder, was first described by Weill in 1932 (Weill 1932) and further delineated by Marchesani in 1939 (Marchesani 1939). Mitral valve stenosis (van de Woestijne et al. 2004) 4. Pulmonary hypertension. 5. Subvalvular fibromuscular aortic stenosis. 6. Congenital pulmonic valve |yih| mwg| rec| xpz| vni| suf| uom| cjn| hks| fyw| tnw| scn| jsr| goq| uuh| bqc| yum| nkz| vrr| ovl| ora| ouv| yjw| msr| zav| rhi| rkn| gob| mlz| nir| fws| her| bni| gtg| jnp| ver| gec| tij| lsu| dru| nxg| eup| clu| lkb| jbw| xxw| qjg| qcz| noa| vsa|