Case Reports in Achondraplasia Journal publishes journal of Achondraplasia case reports, surgery in Achondraplasia journal, surgery journal in Achondraplasia case reports, images in Achondraplasia journal, surgical journal in Achondraplasia journal etc. Achondroplasia is one of the most common and recognized short-limbed skeletal dysplasias, with a prevalence of 1 in 26,000 to 28,000 live births. Although achondroplasia is inherited in an autosomal dominant manner, 80% of affected children have a de novo mutation. The FGFR3 gene is the only gene associated with achondroplasia. Two mutations in this gene account for 99% of cases; both result in an amino acid change (glycine to arginine), which results in continuous activation of the FGFR3 protein. Having a constantly active FGFR3 protein leads to the inhibition of chondrocyte proliferation, which, in turn, inhibits bone growth. The average adult height for patients with achondroplasia is 131 cm for a man and 124 cm for a woman.
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