Chalubinski K, Plenk H, Schaller A
Abteilung für Pränatale Diagnostik und Therapie, Universitätsklinik für Frauenheilkunde Wien.
Ultraschall Med. 1995 Feb;16(1):25-8. doi: 10.1055/s-2007-1003233.
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.
关于妊娠20/21周胎儿经典型“致死性Vrolik型”成骨不全症的产前超声诊断报告。此类成骨不全症的产前诊断依据为软膜颅骨（膜状头）、肋骨钟形结构导致的微胸以及与妊娠周数相比过长的长骨干骺端。这些症状首先是骨形成和矿化紊乱的结果；其基础是先天性胶原合成缺陷。文中还讨论了与成骨不全症“埃克曼-洛布斯坦型”及致死性侏儒症的超声鉴别诊断。
