In this subject, we identified a pathogenic heterozygous de novo missense variant in SP7. The complex skeletal phenotype and the apparently dominant nature of the variant differ markedly from the prior cases of SP7-associated recessive osteogenesis imperfecta and is not readily explained by a simple impairment in osteoblast formation due to loss of SP7 function. The gene discussed is SP7; the disease is osteogenesis imperfecta.