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A clinically mild case of mucopolysaccharidosis type I —Scheie syndrome (case report)

Abstract

A 5-year-old boy presented with prominent chest, clavicles and scapulae. Restricted movements in his large joints and neck were noted. A skeletal survey showed changes of mild dysostosis multiplex. His mental development was normal. Biochemical studies were consistent with the clinical diagnosis of Scheie syndrome.

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Correspondence to: K. Kozlowski

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Kozlowski, K., Nicol, R. & Hopwood, J.J. A clinically mild case of mucopolysaccharidosis type I —Scheie syndrome (case report). Eur. Radiol. 5, 561–563 (1995). https://doi.org/10.1007/BF00208355

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Key words

  • Scheie syndrome
  • Mucopolysaccharidosis I
  • Dysostosis multiplex