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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: Diagnostic journey and impact of enzyme replacement therapy for mucopolysaccharidosis IVA: a sibling control study

Fig. 5

Radiographic features of the hand in the three siblings supportive of MPS IVA. a Patient 1 at 6 years of age showed prominent shortening of the fourth and fifth metacarpals (asterisks) with proximal pointing of the fifth metacarpal (arrowhead) and widening of the first metacarpal. b Patient 2 at 6 years of age showed proximal pointing of the fifth metacarpal (arrowhead) and irregular carpal bones (asterisk). Notably, this patient’s metacarpal abnormalities were much less conspicuous compared with those of his older brother (Patient 1) at the same age. c Patient 3 at 3 years of age showed proximally shortened, widened metacarpals with proximal pointing of the second and fifth metacarpals (arrowheads)

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