Beighton P, Sujansky E, Patzak B, Portele K A
Department of Human Genetics, University of Cape Town, Medical School, South Africa.
Am J Med Genet. 1993 Nov 1;47(6):843-7. doi: 10.1002/ajmg.1320470609.
Skeletal material in the Museum of Pathological Anatomy, Vienna, has been appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way osseous material relating to classical genetic syndromes has been identified and will be available for further study. Among the skeletons of adults in the museum, the following genetic conditions could be diagnosed: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diaphyseal aclasia. In adult sisters with dwarfism and a rickety bone disorder, the final diagnosis was uncertain. Infantile bone dysplasias, genetic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed.
维也纳病理解剖博物馆的骨骼材料已被评估，以修改现有的描述性命名并确定特定遗传疾病的诊断。通过这种方式，已识别出与经典遗传综合征相关的骨质材料，可供进一步研究。在该博物馆的成人骨骼中，可诊断出以下遗传疾病：软骨发育不全、马凡综合征、锁骨颅骨发育不全和骨干发育异常。在患有侏儒症和佝偻病性骨病的成年姐妹中，最终诊断尚不确定。博物馆中所展示的婴儿骨发育异常、涉及颅骨的遗传疾病以及畸形综合征目前正在分析中。
