Review Article

Roentgenographic diagnosis of mucopolysaccharidosis with particular reference to Morquio syndrome

umesh chandra parashari, sachin khanduri, samarjit bhadury, sugandha rawat
South African Journal of Radiology | Vol 16, No 1 | a233 | DOI: https://doi.org/10.4102/sajr.v16i1.233 | © 2012 umesh chandra parashari, sachin khanduri, samarjit bhadury, sugandha rawat | This work is licensed under CC Attribution 4.0
Submitted: 24 February 2012 | Published: 07 February 2012

About the author(s)

umesh chandra parashari, era's lucknow medical college lucknow, India
sachin khanduri, era lucknow medical college lucknow, India
samarjit bhadury, era's lucknow medical college lucknow lucknow, India
sugandha rawat, era lucknow medical college lucknow, India


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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.

Keywords

Mucopolysaccharidosis, Morquio syndrome, central beaking, dysostosis multiplex, lysosomal storage diseases

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Crossref Citations

1. Molecular genetics and metabolism, special edition: Diagnosis, diagnosis and prognosis of Mucopolysaccharidosis IVA
Hira Peracha, Kazuki Sawamoto, Lauren Averill, Heidi Kecskemethy, Mary Theroux, Mihir Thacker, Kyoko Nagao, Christian Pizarro, William Mackenzie, Hironori Kobayashi, Seiji Yamaguchi, Yasuyuki Suzuki, Kenji Orii, Tadao Orii, Toshiyuki Fukao, Shunji Tomatsu
Molecular Genetics and Metabolism  vol: 125  issue: 1-2  first page: 18  year: 2018  
doi: 10.1016/j.ymgme.2018.05.004