This fair-skinned child may be suffering with which of the following diseases?
Correct Answer: Albinism
Description: Defect in Tyrosinase leads to Albinism, which presents with hypopigmentation. Von Gierke disease- doll like facies Alkaptonuria- grey discoloration of sclera, ear & nose cailage (ochronosis)
Category:
Pediatrics
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