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5th February 2024
A 6-year-old female presents with breathlessness and abdominal distension.
A 6-year-old female presents with breathlessness and abdominal distension. Examination reveals macroglossia, frontal bossing, macrocephaly and coarse facies. Dorsal kyphosis was noted. Clouding of her corneas was noted. Hepatosplenomegaly was felt. Achilles tendon contractures were noted, leading to abnormal gait. She is being investigated for the cause of her psychomotor developmental delays.
What is the likely underlying diagnosis?
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