Prenatal diagnosis is possible by analysis of glycosaminoglycans in amniotic fluid by two-dimensional electrophoresis, or by enzyme assay of cultured amniocytes or chorionic villi.
Postnatally the diagnosis is suggested by urinary excretion of dermatan and heparan sulphates, and confirmed by demonstration of the enzyme deficiency in cultured cell lines.
Radiographically the features of dysostosis multiplex are seen.
Marrow examination reveals Reilly bodies (metachromatic inclusions) in histiocytes and lymphocytes.
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