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Achondroplasia

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Abstract

Achondroplasia is the most common skeletal dysplasia. It is due to a gain of function of the fibroblast growth factor 3 receptor. It is inherited in an autosomal dominant pattern. Those affected with achondroplasia have multiple skeletal manifestations including: short stature, spinal stenosis, genu varum, and foramen magnum stenosis.

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Bibliography

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Hansen, H. (2018). Achondroplasia. In: Eltorai, A., Eberson, C., Daniels, A. (eds) Essential Orthopedic Review. Springer, Cham. https://doi.org/10.1007/978-3-319-78387-1_124

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  • DOI: https://doi.org/10.1007/978-3-319-78387-1_124

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-78386-4

  • Online ISBN: 978-3-319-78387-1

  • eBook Packages: MedicineMedicine (R0)

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