Abstract |
Genetically different bone dysplasias may manifest themselves in similar patterns of skeletal abnormalities. It is proposed to group these similar dysplasias in 'families' for two reasons: 1 The knowledge of developmental patterns shared by different genetic disorders cautions the diagnostician and encourages a two-step procedure: a) provisional recognition of a pattern and b) more careful analysis of the pattern to reach a final, specific diagnosis. 2 Families of bone dysplasias may be the result of similar pathogenetic mechanisms. Once the mechanism is discovered in one member of the family, a search for similar mechanisms in others may be rewarding. An example of such a pattern is dysostosis multiplex. It is found in a family of disorders caused by defects of complex carbohydrate degradation. The present study delineates four more patterns and their families: the achondroplasia pattern, spondyloepiphyseal dysplasia congenita pattern, the Larsen/OPD pattern and the Stickler/Kniest pattern.
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Authors | J Spranger |
Journal | Progress in clinical and biological research
(Prog Clin Biol Res)
Vol. 200
Pg. 315-42
( 1985)
ISSN: 0361-7742 [Print] United States |
PMID | 4080742
(Publication Type: Journal Article)
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Topics |
- Achondroplasia
(classification, diagnostic imaging, genetics)
- Bone Diseases, Developmental
(classification, diagnostic imaging, genetics)
- Connective Tissue Diseases
(diagnostic imaging, genetics)
- Genes, Dominant
- Genes, Recessive
- Humans
- Osteochondrodysplasias
(diagnostic imaging, genetics)
- Phenotype
- Radiography
- Syndrome
(diagnostic imaging, genetics)
- Thanatophoric Dysplasia
(diagnostic imaging, genetics)
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