Mutations of fibulin-4 cause an autosomal recessive form of cutis laxa syndrome with aortic aneurysms, arterial tortuosity and stenosis, and minor skin involvement, a different phenotype seen in other forms of cutis laxa either by elastin or fibulin-5 mutation in which skin involvement is the most prominent clinical manifestation [93,94]. The gene discussed is EFEMP2; the disease is cutis laxa.