Alterations to the interactions between LTBP4 and tropoelastin and fibulin-4 would likely perturb normal elastogenesis contributing to ARCL1C pathogenesis where abnormal elastin aggregates are incorrectly incorporated into fibrillin microfibril scaffolds. Here, LTBP4 is linked to cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies.