Abstract
Achondroplasia is the most common skeletal dysplasia, with approximately 250. 000 individuals affected worldwide. This dysplasia is secondary to mutations in FGFR3 gene encoding fibroblast growth factor receptor 3, which result in an increase in its inhibitory effect on bone growth. Musculoskeletal manifestations include foramen magnum stenosis, thoracolumbar kyphosis, spinal stenosis, and genu varum. Medical manifestations include sleep apnea, recurrent otitis media, and obesity. Multidisciplinary management is required to optimize treatment.
| Original language | English (US) |
|---|---|
| Title of host publication | Brenner's Encyclopedia of Genetics |
| Subtitle of host publication | Second Edition |
| Publisher | Elsevier Inc. |
| Pages | 4-6 |
| Number of pages | 3 |
| ISBN (Electronic) | 9780080961569 |
| ISBN (Print) | 9780123749840 |
| DOIs | |
| State | Published - Feb 27 2013 |
Keywords
- Achondroplasia
- Fibroblast growth factor receptor 3
- Foramen magnum stenosis
- Genu varum
- Skeletal dysplasia
- Spinal stenosis
- Thoracolumbar kyphosis
ASJC Scopus subject areas
- Agricultural and Biological Sciences(all)
- Biochemistry, Genetics and Molecular Biology(all)
- Medicine(all)