This TGFB3 mutation (c.754+2T>C) segregated with the clinical phenotype and was also present in 1 young individual (1-IV:1, 17 years old) without documented cardiovascular features (Figure 1, Online Table 2), but with mild systemic manifestations including craniofacial features, easy bruising, and scoliosis. Here, TGFB3 is linked to scoliosis.