title: A type IV osteogenesis imperfecta family and pregnancy: a case report and literature review.
abstract: Osteogenesis imperfecta is a group of inherited connective-tissue disorders in which synthesis or structure of type I collagen is defective and causes osseous fragility. Type IV osteogenesis imperfecta is dominant inheritance. Here, we report a case of type IV osteogenesis imperfecta family and their female member's pregnancy. Abnormal sonographic findings (marked bowing and shortening of long bones) and family history made the diagnosis of fetus with osteogenesis imperfecta. The parents decided to give up rescuing the infant and a caesarean section at 27 weeks of gestation was implemented. In conclusion, it is possible to make a prenatal diagnosis of osteogenesis imperfecta by ultrasound. For the pregnant women with osteogenesis imperfecta, management decision should be made on an individual basis.
authors.affiliation: Department of Obstetrics and Gynecology, Peking University First Hospital, Beijing, China.
authors.forename: Zhao-yi
authors.initials: ZY
authors.lastname: Feng
authors.forename: Qian
authors.initials: Q
authors.lastname: Chen
authors.forename: Chun-yan
authors.initials: CY
authors.lastname: Shi
authors.forename: Hong-wu
authors.initials: HW
authors.lastname: Wen
authors.forename: Ke
authors.initials: K
authors.lastname: Ma
authors.forename: Hui-xia
authors.initials: HX
authors.lastname: Yang
mesh_terms: D000328:Adult; D005260:Female; D005865:Gestational Age; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000000981:diagnostic imaging; D011247:Pregnancy; D011248:Pregnancy Complications; D014463:Ultrasonography