Homozygous or compound heterozygous mutations in the gene for ECM protein Fibulin-4, EFEMP2, cause cutis laxa syndrome (ARCL1B; MIM 614437) in patients, characterized by systemic connective tissue abnormalities, including loose skin, lung emphysema, bone fragility, vascular tortuosity and aneurysms (64). Here, EFEMP2 is linked to aneurysm.