[Prenatal diagnosis of osteogenesis imperfecta. Report of a case classified as the classical Vrolik lethal type].
Report on prenatal sonographic diagnosis of osteogenesis imperfecta of the classical type "letalis Vrolik" in the case of a fetus in the 20th/21st week of pregnancy. The prenatal diagnosis of this kind of osteogenesis imperfecta is based on the soft membranous cranium (Caput membranacium), the microthorax caused by the bell-shaped configuration of the ribs and the diaphysis of the long bones which are too short for the age of pregnancy. These symptoms are first of all the consequence of a disturbed bone formation and mineralisation; its basis is a connatal deficit of collagen synthesis. The sonographic differential diagnosis to the type "Ekman Lobstein" of osteogenesis imperfecta and thanatophoric dwarfism are discussed.
Chalubinski
K
K
Abteilung für Pränatale Diagnostik und Therapie, Universitätsklinik für Frauenheilkunde Wien.
Plenk
H
H
Schaller
A
A
D000025:Abortion, Eugenic; D015519:Bone Density / Q000502:physiology; D001842:Bone and Bones / Q000000981:diagnostic imaging / Q000473:pathology; D003937:Diagnosis, Differential; D005260:Female; D005269:Femur / Q000000981:diagnostic imaging / Q000473:pathology; D006801:Humans; D007231:Infant, Newborn; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000000981:diagnostic imaging* / Q000473:pathology; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal