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Mucopolysaccharidosis IV in Wikipedia

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This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Morquio syndrome". (Source - Retrieved 2006-09-07 14:12:17 from https://en.wikipedia.org/wiki/Morquio_syndrome)

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Introduction

Morquio syndrome (or mucopolysaccharidosis IV) is a mucopolysaccharide storage disease. It has two forms, type A and type B. The disease is caused by an abnormal accumulation of mucopolysaccharide in the body. People with this disease are at risk of heart failure, impaired vision and breathing problems. The condition was first described, simultaneously and independently in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England. They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratosulfate. Morquio observed the disorder in 4 sibs in a family of Swedish extraction and, to further compound the international melange, reported his observations in French.

Symptoms

  • Abnormal skeletal development
  • Large head
  • Knock-knees
  • Widely-spaced teeth
  • Coarse facial features
  • Bell shaped chest (ribs flared)
  • Hypermobile joints
  • Compression of spinal cord
 

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