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Genetic skeletal dysplasias in the Museum of Pathological Anatomy, Vienna

โœ Scribed by Beighton, P. ;Sujansky, E. ;Patzak, B. ;Portele, K. A.

Publisher
John Wiley and Sons
Year
1993
Tongue
English
Weight
531 KB
Volume
47
Category
Article
ISSN
0148-7299

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โœฆ Synopsis

Skeletal material in the Museum of Patholog ical 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.

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## Abstract **BACKGROUND:** Genetic skeletal disorders of the fetus and infant are a large group of genetic disorders, comprising the groups formerly assigned as skeletal dysplasias (osteochondrodysplasias), dysostoses, and malformation syndromes with a skeletal component. Genetic skeletal disorder