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n SA Journal of Radiology - Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome : review

Volume 16, Issue 1
  • ISSN : 1027-202X
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Abstract

Mucopolysaccharidosis (MPS) comprises a group of conditions associated with an abnormality in glycoprotein or mucopolysaccharides metabolism. Types of MPS identified are MPS I-H (Hurler's syndrome, gargoylism), MPS II (Hunter's syndrome), MPS III (Sanfilippo's syndrome), MPS IV (Morquio-Brailsford syndrome), MPS I-S (Scheie's syndrome) and MPS VI (Maroteaux-Lamy syndrome). The Hunter type is inherited as an X-linked recessive; the others are autosomal recessive. Patients with MPS IV can usually be clinically distinguished from patients with other forms of MPS; their intelligence is unimpaired, in contrast with other forms of MPS. Husler coined the term dysostosis multiplex to describe the skeletal findings.

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/content/m_sajr/16/1/EJC66478
2012-02-01
2016-12-10

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