Achondroplasia is a congenital/ developmental disorder characterized by defective endochondral ossification affecting long bones clinically present with disproportionate dwarfism Etiology The most common form of short limb dwarfism in human beings is Achondroplasia Autosomal dominant Chromosome: 4p16.3 Affects fibroblast growth factor receptor gene (FGFR-3) Pathology Enchondral ossification: Epiphyseal growth plate disturbed Instead of orderly proliferation, […]
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Skeletal dysplasia is a heterogeneous group of disorders characterized by different forms of presentation altering skeletal growth and development. Skeletal Dysplasia has been classified according to the following four headings described below. A. Osteochondrodysplasias Conditions primarily affect physis Achondroplasia Hypochondroplasia Conditions primarily affecting the epiphysis Multiple epiphyseal dysplasias Spondyloepiphyseal dysplasias Conditions primarily affecting the metadiaphysis […]
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