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Mucopolysaccharidoses IVa in 16-year-old female (MRI)

T2 cervical spine MRI shows a narrow foramen magnum, diffuse cervical spinal canal stenosis, platyspondyly, kyphosis, and scoliosis. (Contributed by Dr. Agnes Chen.)

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  • retinal degeneration
  • short stature
  • spondyloepiphyseal dysplasia