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Morquio’s syndrome (referred to as mucopolysaccharidosis IV or Morquio’s) is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited. It is a relatively rare dwarfism with serious consequences. When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms.
It involves accumulation of keratan sulfate.[1]
Two forms are recognized, type A and type B.
The condition was first described, simultaneously and independently, in 1929, by Luis Morquio in Montevideo, Uruguay, and by James Frederick Brailsford in Birmingham, England.[2][3][4]
They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in 4 siblings in a family of Swedish extraction and reported his observations in French.
The following symptoms are associated with Morquio’s syndrome:
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