The 3.34 Mb deletion in Case 7 contains 43 coding genes, among which the ELN (*130160) gene is associated with supravalvular aortic stenosis (SVAS, #185500) characterized mainly by pulmonary valvular or peripheral arterial stenosis (Tassabehji et al. 1997), and also with cutis laxa‐1 (ADCL1, #123700) typified by loose and/or wrinkled skin that imparts a prematurely aged appearance (Tassabehji et al. 1998; Zhang et al. 1999). Here, ELN is linked to Peripheral arterial stenosis.