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A 6 month old boy is brought to physician by parents who are first cousins for a well child exam. Boy appears thin, small and lethargic. Physical exam shows slightly misshapen long bones. Joint movements are restricted, corneas are clouded and gums are hyperplastic. Labs show elevated serum levels of acid hydrolases and glycosylases. 1. What is your diagnosis and 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. A 6 month old boy is brought to physician by parents who are first cousins for a well child exam. Boy appears thin, small and lethargic. Physical exam shows slightly misshapen long bones. Joint movements are restricted, corneas are clouded and gums are hyperplastic. Labs show elevated serum levels of acid hydrolases and glycosylases. 1. What is your diagnosis and why? 2. What causes it?





 
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