Diagnosis Dwarfism

Forums Pediatrics Diagnosis Dwarfism

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    Some forms of dwarfism are evident at birth or during infancy and can be diagnosed through X-rays and a physical exam. A diagnosis of achondroplasia, diastrophic dysplasia, or spondyloepiphyseal dysplasia can be confirmed through genetic testing. In some cases, prenatal testing is done if there is concern for specific conditions. Sometimes dwarfism doesn’t become evident until later in a child’s life, when dwarfism signs lead parents to seek a diagnosis. The signs and symptoms to look for in children that indicate a potential for dwarfism are: late development of certain motor skills, such as sitting up or walking; breathing problems; curvature of the spine; bowed legs; joint stiffness and arthritis; lower back pain or numbness in the legs and crowding of teeth.
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