title: Prenatal diagnosis of atelosteogenesis type I at 21 weeks' gestation.
abstract: We describe prenatal diagnosis in a male fetus at 21 weeks of gestation with atelosteogenesis type I (AO I). Fetal ultrasonography (US) revealed absent or deficient ossification of the posterior neural arches of the thoracic spine, humeri, radii, ulnae, fibulae, and short tubular bones other than the distal phalanges, in addition to extremely short, thick femora. Fetal magnetic resonance imaging (MRI) using an ultrafast imaging sequence depicted dysmorphic features, pulmonary hypoplasia, and large cisterna magna. Postmortem radiographs warranted a diagnosis of AO I. Autopsy corroborated not only pulmonary hypoplasia but also laryngeal stenosis. The chondro-osseous histological findings were consistent with those of AO I. Meticulous evaluation using fetal US and MRI permits a definitive prenatal diagnosis of AO I to be made.
authors.affiliation: Department of Obstetrics and Gynecology, Keio University School of Medicine, Tokyo, Japan. kueno@sc.itc.keio.ac.jp
authors.forename: Kazunori
authors.initials: K
authors.lastname: Ueno
authors.forename: Mamoru
authors.initials: M
authors.lastname: Tanaka
authors.forename: Kei
authors.initials: K
authors.lastname: Miyakoshi
authors.forename: Chen
authors.initials: C
authors.lastname: Zhao
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Shinmoto
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Yoshimura
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D001848:Bone Diseases, Developmental / Q000145:classification / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities*; D002946:Cisterna Magna / Q000002:abnormalities; D005146:Facial Asymmetry / Q000196:embryology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D008168:Lung / Q000002:abnormalities; D008279:Magnetic Resonance Imaging; D008297:Male; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal / Q000379:methods*