Abstract
Achondroplasia is a common skeletal dysplasia with severe growth retardation. Recently, mutations in the fibroblast growth factor receptor 3 (FGFR3) were identified in patients with achondroplasia. In the present study, 70 of 75 Japanese patients with achondroplasia were found to have a G1138A mutation in FGFR3, and two patients had a G1138C mutation. Growth hormone therapy was given to 145 patients with achondroplasia. Significant dose-dependent effects on skeletal growth were obtained, with no long-term adverse effects.
Publication types
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Clinical Trial
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Comparative Study
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Randomized Controlled Trial
MeSH terms
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Achondroplasia / complications
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Achondroplasia / drug therapy*
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Achondroplasia / genetics*
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Body Height / drug effects*
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Child
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Child, Preschool
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Female
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Follow-Up Studies
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Growth Disorders / drug therapy
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Growth Disorders / etiology
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Human Growth Hormone / administration & dosage*
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Humans
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Male
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Molecular Biology
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Mutation
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Receptors, Fibroblast Growth Factor / genetics*
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Treatment Outcome
Substances
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Receptors, Fibroblast Growth Factor
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Human Growth Hormone