Rare SP7 mutations in humans cause both recessive and dominant osteogenesis imperfecta (OI).16–20 Three siblings (two boys and one girl) with recessive pattern OI were found to have the homozygous SP7 (c.946 C > T) mutation.16 These patients presented with short stature, low-trauma fractures, low bone mineral density (BMD), mild scoliosis, hearing loss, facial dysmorphism, and delayed tooth eruption. This evidence concerns the gene SP7 and osteogenesis imperfecta.