title: Perinatal lethal type II osteogenesis imperfecta: a case report.
abstract: We report a new case of osteogenesis imperfecta (OI) type II which is a perinatal lethal form. First trimester ultrasound didn't identified abnormalities. Second trimester ultrasound showed incurved limbs, narrow chest, with hypomineralization and multiple fractures of ribs and long bones. Parents refused pregnancy termination; they felt that the diagnosis was late. At birth, the newborn presented immediate respiratory distress. Postnatal examination and bone radiography confirmed the diagnosis of OI type IIA. Death occurred on day 25 of life related to respiratory failure.
authors.affiliation: Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
authors.forename: Imene Dahmane
authors.initials: ID
authors.lastname: Ayadi
authors.affiliation: Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
authors.forename: Emira Ben
authors.initials: EB
authors.lastname: Hamida
authors.affiliation: Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
authors.forename: Rania Ben
authors.initials: RB
authors.lastname: Rebeh
authors.affiliation: Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
authors.forename: Sihem
authors.initials: S
authors.lastname: Chaouachi
authors.affiliation: Department of Neonatology, Charles Nicolle Hospital, Tunis-El Manar University, Tunis, Tunisia.
authors.forename: Zahra
authors.initials: Z
authors.lastname: Marrakchi
mesh_terms: D000328:Adult; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000175:diagnosis* / Q000503:physiopathology; D011247:Pregnancy; D012131:Respiratory Insufficiency / Q000209:etiology*; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: Osteogenesis imperfecta; newborn; prenatal diagnosis