2.1e. Dysmorphic Features: Coarsness


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http://costellokids.com/content/2007-costello-syndrome-conference-usa
http://www.forgottendiseases.org/assets/Beckwith_Wiedemann_syndrome.html
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LSDs must not to be confused with other genetic conditions that can also cause coarseness. These are three illustrations of other genetic conditions that are not lysosomal storage diseases that may look like a lysosomal storage disease - Costello Syndrome, Beckwith-Wiedemann Syndrome and Simpson Golabi Syndrome. This is more commonly known by pediatricians just because they present in a dramatic way after birth.  They have this big tongue, and they have difficulty with breathing. This is more known by the general pediatrician.

 

 

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