Beighton P, Sujansky E, Patzak B, Portele K A
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Pediatr Radiol. 1994;24(6):384-6. doi: 10.1007/BF02011901.
The Vienna Museum of Pathological Anatomy contains a vast collection of abnormal skeletons. We have appraised this material and attempted to establish firm diagnoses of specific genetic disorders in terms of modern syndromic concepts. A number of the skeletons in the museum are those of deceased neonates; in many instances it was impossible to reach a diagnosis on the basis of the outward appearance but radiographic investigations confirmed diagnoses including osteogenesis imperfecta type II, thanatophoric dysplasia, achondroplasia and achondrogenesis. The Vienna collection represents a priceless resource for the investigation of genetic skeletal disorders of this type.
维也纳病理解剖博物馆收藏了大量异常骨骼。我们对这些资料进行了评估，并试图依据现代综合征概念对特定遗传性疾病做出确切诊断。博物馆里的一些骨骼来自已故新生儿；在很多情况下，无法根据外观做出诊断，但X光检查证实了包括II型成骨不全、致死性骨发育不良、软骨发育不全和软骨发生不全在内的诊断。维也纳的藏品是研究这类遗传性骨骼疾病的宝贵资源。
