Presentation
Patient with coarse facial features, cardiac murmure, gibbus and dental decay.
Patient Data
Age: 3 years
Gender: Male
From the case:
Mucopolysaccharidosis type VI - Maroteaux Lamy syndrome
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Bullet-shaped metacarpal bones and phalanges.
Slanting/ convergent distal radius and ulna. Osteopenic appearance of the wrist and hand bones with diffusely coarse trabecular bone.
Case Discussion
Leukocyte enzyme assay identified the MPS type as 6 - Maroteaux-Lamy syndrome.