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Definition: a skeletal dysplasia prevalent among the Amish, characterized by short-limb dwarfism, sparse, light-colored hair, T-cell immunologic defect rendering them susceptible to infections and radiographic findings of metaphysial dysplasia. Autosomal recessive inheritance, caused by mutation in the gene RMPR on 9p.
Synonym(s): McKusick metaphysial dysplasia
Examples: glitazone, GI cocktail, etc.
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