Notes in Achondroplasia

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Published	10/08/2024	Patients with achondroplasia have disproportionate {{c1::short}} stature
Published	10/08/2024	The achondroplasia gene, {{c1::fibroblast growth factor receptor 3 (FGFR3)}}, is on chromosome {{c1::4 }}Achondroplasia results from ei…
Published	10/08/2024	Mutations in the FGFR3 gene causes abnormal function of the {{c1::epiphyseal}} plates  This restricts the bone growth in {{c1::len…
Published	10/08/2024	Features of achondroplasia include:• Short digits• {{c1::Bow (genu varum)}} legs • Disproportionate {{c1::skull}}• {{c1::Foramen magnum}} stenosi…
Published	10/08/2024	Achondroplasia Associations• Recurrent {{c1::otitis media}}, due to cranial abnormalities • Spine: {{c1::Kyphoscoliosis & spinal stenosis}}• …
Published	10/08/2024	What is achondroplasia:Definition {{c1::A genetic disorder characterised by impaired longitudinal bone growth that results in a disproportionate short…
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