Achondroplasia: Difference between revisions
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== Prevalence == | == Prevalence == | ||
According to a study performed in 2008 by Waller and colleagues "the prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths."<ref name="Waller et al">Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008; 146A (18):2385-9. http://www.ncbi.nlm.nih.gov/pubmed/18698630 (accessed on Apr 2011).</ref><br> | |||
== Characteristics/Clinical Presentation == | == Characteristics/Clinical Presentation == | ||
Revision as of 04:13, 5 April 2011
Original Editors - Nora Richardson from Bellarmine University's Pathophysiology of Complex Patient Problems project.
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Definition/Description[edit | edit source]
Achondroplasia is a rare congenital disease which predominantly affects the long bones of the body. Most cases are from an autosomal dominant inherited fibroblast growth factor receptor-3 (FGFR3) gene which has been mutated. "In endochondral bone development, the mutation increases the firbroblast growth factor receptor-3 signaling, which interferes with chondrocyte proliferation and differentiation, adversely affecting the epiphysial (growth) plates."[1]
Prevalence[edit | edit source]
According to a study performed in 2008 by Waller and colleagues "the prevalence of achondroplasia ranged from 0.36 to 0.60 per 10,000 livebirths."[2]
Characteristics/Clinical Presentation[edit | edit source]
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Associated Co-morbidities[edit | edit source]
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Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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References[edit | edit source]
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- ↑ June Yoshii, BS, and Vincent C, Traynelis, MD. Achondroplasia and cervical laminoplasty Case report. J Neurosurg Spine 2009; 11:417-420. http://thejns.org/doi/pdf/10.3171/2009.4.SPINE09164 (accessed on Apr 2011).
- ↑ Waller DK, Correa A, Vo TM, Wang Y, Hobbs C, Langlois PH, Pearson K, Romitti PA, Shaw GM, Hecht JT. The population-based prevalence of achondroplasia and thanatophoric dysplasia in selected regions of the US. Am J Med Genet A 2008; 146A (18):2385-9. http://www.ncbi.nlm.nih.gov/pubmed/18698630 (accessed on Apr 2011).
