Q:

A 9-year-old boy presented with tiredness on exertion; cardiac auscultmtion reveals a murmur in aortlc area

Anwaar
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2022-09-11
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A 9-year-old boy presented with tiredness on exertion; cardiac auscultmtion reveals a murmur in aortlc area;  echo study showed aortic valve disease. On exammation he had mild coarse facial features, corneal clouding, joint stiffness, and mild dysostosis multiplex but normal intelligence and stature.
Of the following,the MOST likelydiagnosis is

  1. Hurler disease
  2. Scheie disease
  3. Hunter disease
  4. Morquio disease
  5. Sanfilippo disease
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Anwaar
2022-09-11
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(B). Scheie is a comparatively mild disorder characterized by joint stiffness, aortic valve disease, corneal clouding, and mild dysostosis multiplex. Patients with Scheie disease have normal intelligence and stature but have significant joint and ocular involvement.

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