Mucopolysaccharidosis IV. type
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- synonyms: dysostosis enchondralis epimetaphysaria, m. Morquio-Brailsford [1]
- accumulation of keratan sulfate and chondroitin sulfate
- significant skeletal impairment (dwarfism with shortened torso, thoracolumbar kyphosis, genua valga)
- limbs noticeably long compared to the short spine, the patient rests his hands on his thighs [2]
- intellect unaffected [3]
- OMIM 253010 OMIM 25300 OMIM 252300
Links[edit | edit source]
Bibliography[edit | edit source]
- ↑ SOSNA, A. – VAVŘÍK, P. – KRBEC, M.. Základy ortopedie. 1. edition. Praha : Triton, 2001. ISBN 80-7254-202-8.
- ↑ POVÝŠIL, Ctibor – ŠTEINER, Ivo, et al. Speciální patologie. 2.. edition. Praha. 2007. vol. 297-299. ISBN 978-80-7262-494-2.
- ↑ DUNGL,. Ortopedie. 1. edition. Praha : Grada Publishing, 2005. ISBN 80-247-0550-8.
Related articles[edit | edit source]
- Mucopolysacharidosis
- Hereditary disorders of sugar metabolism
- Achondroplasia ▪ Tanatophoric dwarfism ▪ Diastrophic dysplasia ▪ Larsen syndrome
