It has been known that the fragment duplication of 3q28 encompassing CLDN16 was associated with multiple congenital abnormalities including coarctation of the aorta, atrial septal defect (ASD) and ventrical septal defect (VSD), hypertrichosis and umbilical hernia/omphalocele [19], while our patients presented the phenotype of hypertrichosis in which CLDN16 might play an important role. The gene discussed is CLDN16; the disease is ventricular septal defect.