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Introduction: Skeletal dysplasias, also termed as osteochondrodysplasias, are a large heterogeneous group of disorders characterized by abnormalities of bone or cartilage growth or texture. They occur due to genetic mutations and their phenotype continues to evolve throughout life. Reduced growth is a common feature.
Objective: To evaluate and disc...
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Achondroplasia is the most common form of chondrodysplasia. It caused by point mutations in the transmembrane domain of the fibroblast growth factor receptor 3 (FGFR 3) gene. Achondroplasia is not associated with growth hormone (GH) deficiency however GH therapy has some beneficial effects as per some reported cases. To our knowledge only one case...