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- W2774007040 abstract "Mucopolysaccharidosis (MPS) type IV (Morquio's disease) is clinically, genetically and biochemically very heterogeneous. The current classification on type A and B with established enzymatic deficiency and type C with unknown enzymatic defect only partially disclose heterogeneity of the Morquio disease. Here we present a fourteen-year old girl and her nine-year old brother with short trunk dwarfism, normal intelligence, coarsening of facial features, mixed type of conductive and sensorineural deafness, short neck, pectus carinatum, lumbar kypohsis, slight genua valga, flat feet, laxity of all joints, especially of hands and fingers. The skeletal survey showed changes consistent with MPS IV. Keratosulphaturia was not proved, but hondroitin sulphate 4 and 6 in urine were elevated. The activity of the enzyme N-acetylgalactosamine-6-sulphate sulphatase and the beta-galacotosidase in fibroblasts was normal. The activities of other examined lysosomal enzymes were within normal range. After careful analysis other known syndromes with short trunk skeletal dysplasia were dismissed as a possible cause of the disease. In both sibs extensive dental changes typical for MPS IV A were found. In the girl a diagnosis of cistinuria type I was also established. Our observation does not confirm with the assertion that the dental changes in MPS IV are a useful clincal way of distinguishing MPS IVB and C from MPS A." @default.
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- W2774007040 date "1994-01-01" @default.
- W2774007040 modified "2023-09-27" @default.
- W2774007040 title "Mucopolysaccharidosis IV C in brother and sister (with dental chages typical for mucopolysaccharidosis IV A)" @default.
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