Classification of Genetic Skeletal Disorders: 2010 Revision
Author Information
Author(s): Warman Matthew L, Cormier-Daire Valerie, Hall Christine, Krakow Deborah, Lachman Ralph, LeMerrer Martine, Mortier Geert, Mundlos Stefan, Nishimura Gen, Rimoin David L, Robertson Stephen, Savarirayan Ravi, Sillence David, Spranger Juergen, Unger Sheila, Zabel Bernhard, Superti-Furga Andrea
Conclusion
The 2010 revision includes 456 genetic skeletal disorders grouped by clinical and molecular criteria, aiding in diagnosis and research.
Supporting Evidence
- The revision includes 456 conditions placed in 40 groups.
- 316 conditions are associated with mutations in 226 different genes.
- The Nosology serves as a bridge between clinicians and scientists in skeletal biology.
Takeaway
This study lists different genetic disorders that affect bones and groups them to help doctors understand and diagnose these conditions better.
Methodology
The Nosology Group met to reach a consensus on the classification of disorders based on clinical, radiographic, and molecular criteria.
Limitations
The classification may not cover all genetic skeletal disorders and relies on existing literature for inclusion.
Digital Object Identifier (DOI)
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