Severe rhizomelic skeletal dysplasia in a museum skeleton
β Scribed by A. G. Nerlich; Peter Freisinger
- Book ID
- 105960873
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 236 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0364-2348
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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 ava
W e report on a 6-year-old girl with SPONA-STRIME dysplasia, characterized by shortlimbed dwarfism, a relatively large head, midfacial hypoplasia, a saddle nose, moderate deformities of the vertebral bodies, striated metaphyses, and normal intelligence. She showed severe skeletal changes including m