Figure 1

Characteristic features of mucopolysaccharidosis type II. Fourteen-year-old boy showing (a) coarsened facial features (including enlarged head, broad nose with flared nostrils, prominent supraorbital ridges, large jowls, thickened lips, and irregular peg-shaped teeth), (b) musculoskeletal manifestations (including short neck, short stature, and joint stiffness [unable to raise arms above head]) and (c) abdominal distension due to hepatomegaly and splenomegaly. (d) Tracheomalacia seen at airway endoscopy. (a)-(b) reproduced with permission from Martin and colleagues [11], Copyright ^© 2008 by the AAP; (a)-(c) courtesy of Professor Joseph Muenzer; (d) courtesy of Dr Iain Bruce.