Morquio's disease

• 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

© 2002, C.E. Kahn, Jr.
2002-04-18