Hucthagowder et al. [9] identified a missense mutation (c.169 G > A; p.E57K)in FBLN4 in a child with multiple fractures, cutis laxa, vasculartortuosity and aneurysms, emphysema, inguinal and diaphragmatic hernia and jointlaxity. The gene discussed is EFEMP2; the disease is pulmonary emphysema.