GENETIC SKELETAL DYSPLASIAS IN THE MUSEUM OF PATHOLOGICAL ANATOMY, VIENNA

Skeletal material in the Museum of Pathological Anatomy, Vienna, has b een appraised in order to modify existing descriptive designations and to establish diagnoses of specific genetic disorders. In this way oss eous material relating to classical genetic syndromes has been identif ied and will be available for further study. Among the skeletons of ad ults in the museum, the following genetic conditions could be diagnose d: achondroplasia, Marfan syndrome, cleidocranial dysostosis, and diap hyseal aclasia. In adult sisters with dwarfism and a rickety bone diso rder, the final diagnosis was uncertain. Infantile bone dysplasias, ge netic conditions involving the skull, and malformation syndromes which are all represented in the museum are currently being analyzed. (C) 1 993 Wiley-Liss, Inc.