Mucopolysaccharidoses (MPS) are a group of disorders characterized by the accumulation of glycosaminoglycans. Skeletal abnormalities are early and prominent features of MPS. Cervical spine and atlantoaxial instability, thoracolumbar kyphosis, hip dysplasia and osteonecrosis, genu valgum, and carpal tunnel syndrome are frequently observed. MPS disease-awareness is important for pediatric healthcare providers who should be able to recognize the clinical presentation, musculoskeletal abnormalities, and radiographic findings associated with this group of disorders.
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