title: A case of fetal osteogenesis imperfecta type 2A: longitudinal observation of natural course in utero and pitfalls for prenatal ultrasound diagnosis.
abstract: We present a case of osteogenesis imperfecta (OI) type 2A in which a natural course in utero was observed from 23 weeks' gestation to term. At 23 weeks' gestation, a sonographic examination showed a cloverleaf skull-like head, a narrow thorax, and marked shortening of the long bones with bowing of the femurs and humeri. Follow-up examinations showed that the cloverleaf skull-like head was not evident at 28 weeks' gestation. Discontinuity of the ribs and femurs was observed at 26 and 30 weeks' gestation, respectively. This finding suggested bone fractures, which were confirmed by three-dimensional computed tomography at 32 weeks' gestation. Ultrasonographic findings of bones, including the long bones and calvarium, changed with advancing gestation during the second trimester. Characteristic features of OI type 2A were evident during the late second to early third trimesters. Repeated ultrasonographic examinations together with three-dimensional computed tomography are necessary for the definitive diagnosis of OI type 2A in the second trimester.
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Ibuki
authors.initials: I
authors.lastname: Kimura
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Araki
authors.affiliation: Center for Maternal, Fetal and Neonatal Medicine, Fukuoka University Hospital, 7-45-1 Nanakuma, Jonan-ku, Fukuoka, 814-0180, Japan. ty-obgyn@cis.fukuoka-u.ac.jp.
authors.forename: Toshiyuki
authors.initials: T
authors.lastname: Yoshizato
authors.affiliation: Department of Obstetrics and Gynecology, Faculty of Medicine, Fukuoka University, Fukuoka, Japan.
authors.forename: Shingo
authors.initials: S
authors.lastname: Miyamoto
mesh_terms: D000328:Adult; D005260:Female; D005865:Gestational Age; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000196:embryology*; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
keywords: Osteogenesis imperfecta type 2A; Prenatal diagnosis; Ultrasonography