dictionary help| Morquio-Ullrich disease --> Morquio's syndrome | medical dictionary |
<syndrome>
An error of mucopolysaccharide metabolism with excretion of keratan sulfate in urine; characterised by severe skeletal defects with short stature, severe deformity of spine and thorax, long bones with irregular epiphyses but with shafts of normal length, enlarged joints, flaccid ligaments, and waddling gait; autosomal recessive inheritance; type IV A mucopolysaccharidosis is due to an absence of galactose-1-sulfatase, while type IV B is due to a deficiency of a beta-galactosidase.
Radiological features include platyspondyly (universal vertebra plana = hallmark), dwarfism, kyphosis, severe disability, anterior beaks of vertebrae, wine glass pelvis.
Synonyms: Brailsford-Morquio disease, Morquio's disease, Morquio-Ullrich disease, type IVA, B mucopolysaccharidosis.
(05 Mar 2000)
-morphous, morpion, Morquio, Louis, Morquio's disease < Prev | Next > Morquio-Ullrich disease, morrhuate sodium, morris
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