title: Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna.
abstract: 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.
authors.affiliation: Department of Human Genetics, University of Cape Town, Medical School, South Africa.
authors.forename: P
authors.initials: P
authors.lastname: Beighton
authors.forename: E
authors.initials: E
authors.lastname: Sujansky
authors.forename: B
authors.initials: B
authors.lastname: Patzak
authors.forename: K A
authors.initials: KA
authors.lastname: Portele
mesh_terms: D000130:Achondroplasia / Q000235:genetics / Q000473:pathology; D000328:Adult; D001317:Austria; D001848:Bone Diseases, Developmental / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000473:pathology*; D002973:Cleidocranial Dysplasia / Q000235:genetics / Q000473:pathology; D005097:Exostoses, Multiple Hereditary / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008382:Marfan Syndrome / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D009144:Museums; D010336:Pathology; D012279:Rickets / Q000235:genetics / Q000473:pathology*