2.3c. Bone Disease


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Dysostosis multiplex is a common name that is frequently used when discussing lysosomal storage disease. It is a diagnostic feature, a constellation of radiographic abnormalities resulting from defective endochondral and membranous growth throughout the body. It causes very severe changes in the bone, and it’s usually associated with muccopolysaccharidosis, mucolipidosis and GM1 gangliosidosis. The way to see these changes is to order a skeletal survey, - everything from the skull all the way to the toes. The radiological abnormalities tend to be present before the patient exhibits signs, and symptoms that will lead them to go to the pediatrician and ask for help.

 

 

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