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

K. Kozlowski; R. Nicol; J. J. Hopwood

doi:10.1007/BF00208355

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

K. Kozlowski, R. Nicol, J. J. Hopwood

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	561-563
Number of pages	3
Journal	European Radiology
Volume	5
Issue number	5
DOIs	https://doi.org/10.1007/BF00208355
Publication status	Published - 1 Oct 1995
Externally published	Yes

Keywords

Dysostosis multiplex
Mucopolysaccharidosis I
Scheie syndrome

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging

Access to Document

10.1007/BF00208355

Link to publication in Scopus

Cite this

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title = "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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AU - Nicol, R.

AU - Hopwood, J. J.

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KW - Mucopolysaccharidosis I

KW - Scheie syndrome

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