Kozlowski K, Masel J, Morris L, Kunze D
Rofo. 1978 Nov;129(5):626-33. doi: 10.1055/s-0029-1231172.
Seven cases of rare "Neonatal Death Dwarfism" observed recently in three major Children's Hospitals in Australia are reported. These include Diastrophic Dwarfism, Achondrogenesis II, Lethal Form of Hypophosphatasia, Homozygous Achondroplasia, Minor Form of Asphyxiating Thoracic Dystrophy, Achondrogenesis II (?) and Unclassified Lethal Bone Dysplasia. In all the patients the clinical diagnosis was uncertain or incorrect, whereas a conclusive radiographic diagnosis could be made after X-ray examination in all but one of the cases. Skeletal survey should be performed in each case of neonatal death dwarfism.
据报道,澳大利亚三大儿童医院近期观察到7例罕见的“新生儿死亡性侏儒症”病例。这些病例包括畸形性侏儒症、软骨发育不全II型、低磷酸酯酶症致死型、纯合子软骨发育不全、窒息性胸廓发育不良轻型、软骨发育不全II型(?)以及未分类的致死性骨发育异常。所有患者的临床诊断均不明确或有误,而除1例之外,其余病例经X线检查后均可做出确切的影像学诊断。对于每一例新生儿死亡性侏儒症病例均应进行骨骼检查。