2.1c. Dysmorphic Features: Coarsness


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This is a compilation of different children with different lysosomal storage diseases to show that even though they have an LSD not everybody with an LSD will look coarse because LSDs are different. Again it goes back to the tissue where the substrate is accumulating. If that substrate is not accumulating in the connective tissue and the bones then there’s no reason for your face to look different. This makes it very hard for pediatricians to pick up on the coarseness and the dysmorphic features when they see a child who looks like some of those here, and they will never think of lysosomal storage disease because every pediatrician will think of that very severe phenotype that they read about and they are expecting every child to look this way. They may miss the milder cases, they may miss the normal-looking LSD patients who don’t have the coarseness.

 

 

 

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