 The presence of epiphyseal changes serves as an important differentiating feature from achondroplasia.COL1A1/2-related osteogenesis Imperfecta is inherited in an autosomal dominant manner.The proportion of cases caused by a De novo COL1A1 or COL1A2 mutations are the cause of osteogenesis Imperfecta in the vast majority of perinatally lethal osteogenesis Imperfecta, and progressively deforming osteogenesis Imperfecta.