title: Fetus with osteogenesis imperfecta presenting as increased nuchal translucency thickness in the first trimester.
abstract: Type II osteogenesis imperfecta (OI) is a perinatally lethal disorder due to type I collagen abnormalities that has been diagnosed successfully in the second trimester. We report a case of type II OI that was confirmed on postmortem histology and radiography presenting as increased nuchal translucency in the first trimester.
authors.affiliation: Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan.
authors.forename: Charles Tsung-Che
authors.initials: CT
authors.lastname: Hsieh
authors.forename: Guang-Perng
authors.initials: GP
authors.lastname: Yeh
authors.forename: Hsin-Hung
authors.initials: HH
authors.lastname: Wu
authors.forename: Joung-Liang
authors.initials: JL
authors.lastname: Wu
authors.forename: Pan-Hsin
authors.initials: PH
authors.lastname: Chou
authors.forename: Yueh-Min
authors.initials: YM
authors.lastname: Lin
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D006801:Humans; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging* / Q000196:embryology; D011247:Pregnancy; D011256:Pregnancy Outcome; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000379:methods*