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Musculoskeletal system

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Morquio's disease

mucopolysaccharidosis (MPS) type IV
  • autosomal recessive deficiency of N-acetylgalactosamine-6-sulfatase
      build up of keratin sulfate

  • normal intelligence
  • platyspondyly ("universal vertebra plana" = hallmark)
  • dwarfism, kyphosis, severe disability
  • anterior beaks of vertebrae/bullet shaped
  • "wine glass" pelvis

Charles E. Kahn, Jr., MD  -  2 February 1995
Last updated:  1 October 2013


 

Related CHORUS documents:
mucopolysaccharidoses
pelvis
bullet shaped vertebrae
Hurler's syndrome
achondroplasia
atlantoaxial subluxation

 

Copyright © 2013, Charles E. Kahn, Jr.