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Washington University Experience | METABOLIC | Mucopolysaccharidosis | 1A1 Mucopolysaccharidosis, Hunter Dz (Case 1) 6

Findings compatible with the MPS diagnosis include coarse facial features with thick, bushy eyebrows which meet in the midline, hyperteliorism, broad nose, depressed nasal bridge, full cheeks, short neck, and thick protuberant tongue. ---- Invisible in this image is his short stature, a massive degree of hepatosplenomegaly with highly vacuolated hepatocytes, hypertrophic tracheal and bronchial cartilages, joint laxity and hernias, episodic diarrhea and constipation, urinary irritation and respiratory infection.

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