Mutation Detection Of A Shanghai Osteogenesis Imperfect Pedigree

Objective:Study of osteogenests imperfecta in a Shanghai familyMethod:Study of a family presenting with osteogenesis imperfecta in Shanghai 6th people's hospital.Collect samples,hereditary tree was constructed,then analysis of clinical traits and mode of inheritance was performed.Results:this family have 5 generations with 30 family members,of which,11 members present with osteogenesis imperfecta.Current surviving members include 4 males and S females totaling 9 cases.7 young adults have history of fracture,bon,deformity,and blue sclera,4 had hearing impairment and 2 had poor fracture healing.Conclusion:the lab and clinical results of this family match diagnosis of type I osteogenesis imperfecta.This family presents with autosomal dominant hereditary mode.