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Mucopolysaccharidoses IVa in 16-year-old female

Photos demonstrating coarse facial features, sternal and chest wall deformity, kyphosis, genu valgum, and severe short stature (height 102.5 cm). (Contributed by Dr. Agnes Chen.)

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  • cardiomyopathy
  • odontoid hypoplasia
  • retinal degeneration
  • short stature
  • spondyloepiphyseal dysplasia