Patient Story

  • Orthopedics: Alex

    Orthopedics: Alex

    Eight-year-old Alex is in constant motion. The difference in the length of his legs and wearing a built-up sneaker doesn’t slow him down one bit. His ...

References

  1. Cole, D.E.C. Fukuda, S. Gordon, B.A. Rip, J.W. LeCouteur, A.N. Rupar, C.A. Tomatsu, S. Ogawa, T. Sukegawa, K. Orii, T. Heteroallelic Missense Mutations of the Galactosamine-6-Sulfate Sulfatase (GALNS) Gene is a Mild Form of Morquio Disease (MPS IVA) American Journal of Medical Genetics. 63: 558-565. 1996.
  2. Giugliani, R. Jackson M. Skinner S.J. Vimal C. M. Fensom A. H. Fahmy A. Sjövall. Beson, P. F. Progressive mental regression in siblings with Morquio disease Type B (mucopolysaccharidosis IV B). Clinical Genetics. 32: 313-325. 1987.
  3. Greaves, M.W. Inman, P. M. Cutaneous Changes in the Morquio Syndrome. Br. J. Derm. 81: 29-36. 1969.
  4. Jones, Kenneth L. Recognizable Patterns of Human Malformation. Philadelphia, PA: Elsevier Saunders. 2006
  5. Kopits, Steven E. Orthropedic Complications of Dwarfism. Clinical Orthopedics and Related Research. 144: 153-179. 1976.
  6. Matalon, R.; Arbogast, B.; Dorfman, A. Morquios syndrome: a deficiency of chondroitin sulfate N-acetylhexosamine sulfate sulfatase. (Abstract) Pediat. Res. 8: 436, 1974.
  7. Nelson, J.; Crowhurst, J.; Carey, B.; Greed, L. Incidence of the mucopolysaccharidoses in western Australia. Am. J. Med. Genet. 123A: 310-313, 2003.
  8. Scott, Charles I. Dwarfism. Clinical Symposium, 1988; 40(1):9-10.
  9. Spranger, Jurgen W. Brill, Paula W. Poznanski, Andrew. Bone Dysplasias: An Atlas of Genetic Disorder of Skeletal Development. Oxford: Oxford University Press. 2002.
  10. Taybi, Hooshang. Lachman, Ralph S. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasias. St. Louis, MO: Mosby-Year Book, Inc. 1996.
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