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Newborn born at 39 weeks has several physical deformities. Thick gums, large tongue. Newborn has dislocation of left hip and clubbing of feet with relative immobility of extremities. Fibroblast biopsies from infant show abnormal inclusions by electron microscopy and enzyme assays from serum samples of patient contain lysosomal enzyme activity. 1. What is your diagnosis? Why? 2. What causes it?

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The General Principles section of the USMLE covers these topics:
Biochemistry
Genetics
Microbiology
Pathology
Pharmacology


1. Newborn born at 39 weeks has several physical deformities. Thick gums, large tongue. Newborn has dislocation of left hip and clubbing of feet with relative immobility of extremities. Fibroblast biopsies from infant show abnormal inclusions by electron microscopy and enzyme assays from serum samples of patient contain lysosomal enzyme activity. 1. What is your diagnosis? Why? 2. What causes it?





 
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