A clinically mild case of mucopolysaccharidosis type I —Scheie syndrome (case report)
| ISSN: |
1432-1084
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| Keywords: |
Scheie syndrome ; Mucopolysaccharidosis I ; Dysostosis multiplex
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| Source: |
Springer Online Journal Archives 1860-2000
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| Topics: |
Medicine
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| Notes: |
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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| Type of Medium: |
Electronic Resource
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| URL: |