Mucopolysaccharidosis: Clinical and Radiological Aspects

  • Arshad Iqbal Wani
  • Khalid J Farooqi
  • Mir Iftikhar Bashir
  • Shahnaz Ahmad Mir
  • Shariq Rashid Masoodi Department of Endocrinology SKIMS
DOI: https://doi.org/10.33883/jms.v15i1.115
Keywords: Mucopolysaccharidosis, skeletal abnormalities, dysostosis multiplex

Abstract

Mucopolysaccharidosis (MPS) refers to a group of genetic disorder characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes. It produces characteristic skeletal abnormalities collectively termed as “dysostosis multiplex”. Here we describe a young female child with classical radiological features of MPS on plain radiographs. JMS 2012;15(1):54-56.

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Author Biographies

Arshad Iqbal Wani

M.D

Khalid J Farooqi

M.D

Mir Iftikhar Bashir

M.D

Shahnaz Ahmad Mir

M.D

Shariq Rashid Masoodi, Department of Endocrinology SKIMS

 D.M, M.D, FACP, FRCP (Edinburgh)]

Published
2012-06-11
How to Cite
1.
Wani A, Farooqi K, Bashir M, Mir S, Masoodi S. Mucopolysaccharidosis: Clinical and Radiological Aspects. jms [Internet]. 2012Jun.11 [cited 2026Oct.2];15(1):54-6. Available from: https://www.jmsskims.org/index.php/jms/article/view/115
Issue
Vol 15 No 1 (2012): January-June
Section
Case Reports

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