Osteogenesis imperfecta or brittle bone disease in children is a rare but troublesome clinical disease. The disease is characterized by a decrease in bone quality due to a lack of collagen in the body, so children with the disease often have spontaneous bone fractures without trauma or multiple bone fractures at the same time.

Most cases of osteogenesis imperfecta are inherited as autosomal dominant disorders and have a prevalence of 1/20,000. Current genetic analysis techniques are an important foundation for prenatal diagnosis of high-risk subjects with osteogenesis imperfecta in order to prevent and reduce the incidence of the disease.