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I-cell disease in 13-month-old boy (full-body image)

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The patient has a coarse face, short neck, umbilical hernia, thick skin, and rigidity of joints. (Source: Khan SA, Tomatsu SC. Mucolipidoses overview: past, present, and future. Int J Mol Sci 2020;21(18):6812. Enlarged and edited by Douglas J Lanska MD MS MSPH to improve sharpness and contrast. Creative Commons Attribution [CC BY] license. http://creativecommons.org/licenses/by/4.0.)