Hereditary osteogenesis imperfecta in a Chinese family

Objective To study the features of hereditary osteogenesis imperfecta in a Chinese family tree. Methods Hereditary osteogenesis imperfecta in a family of Anyang City, Henan Province, China, was investigated with questionnaire.The family underwent examination in our department and its clinical data were collected.An atlas was plotted for the family.The clinical features of hereditary osteogenesis imperfecta and its hereditary mode were analyzed. Results There were 40 members including 4 generations in the family.Of the 10 members with hereditary osteogenesis imperfecta, 7 were survivors (5 males and 2 females) with a history of fracture, bone deformity, blue sclera and teeth dysplasia, 3 had hearing impairment and 3 had poor fracture healing. Conclusion The clinical diagnosis of hereditary osteogenesis imperfecta in the family is consistent with Sillence I osteogenesis imperfecta with autosomal dominant inheritance as its hereditary mode.