title: [Sonographic diagnosis of a case of type 1 achondrogenesis in the 2d trimester].
abstract: The authors report on a prenatal ultrasonic diagnosis of lethal osteochondrodysplasia achondrogenesis type I (Parenti-Fraccaro) in the 17th week of pregnancy. The prenatal findings were confirmed by necropsy after termination of the pregnancy. The possibility to recognize lethal skeletal disorders early in pregnancy is discussed as well as the patho-anatomical criteria and possible patho-physiological mechanisms of achondrogenesis.
authors.affiliation: I. Frauenklinik der Universität München.
authors.forename: T
authors.initials: T
authors.lastname: Schramm
authors.forename: A
authors.initials: A
authors.lastname: Nerlich
mesh_terms: D000028:Abortion, Induced; D000130:Achondroplasia / Q000175:diagnosis*; D000328:Adult; D005260:Female; D006801:Humans; D015160:Hydrops Fetalis / Q000175:diagnosis; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014463:Ultrasonography
vernacular_title: Sonographische Diagnose eines Falles von Achondrogenesie Typ 1 im zweiten Trimenon.