Mucopolysaccharidosis 6 (Maroteaux-Lamy syndrome) at an orthopedic clinic
Volkov, M.V.; Meerson, E.M.; Nechvolodova, O.L.; Iukina, G.P.; Bruskina, V.I.
Ortopediia Travmatologiia i Protezirovanie 3: 1-9
1979
ISSN/ISBN: 0030-5987 PMID: 112522 Document Number: 3650
Materials of the clinico-genealogic analysis of 11 cases of the Maroteaux-Lamy syndrome (mucopolysaccharidosis of VI type - MPS VI) from 10 families are presented. Investigations were carried out at the level of organism, at the cellular and subcellular level. The examinations involved 23 nearest relatives of the probands (fathers, mothers, siblings). Criteria of the clinico-roentgenographic characteristic of MPS VI have been worked out, the pathognomonic symptoms of the disease elucidated. A characteristic is given of the extraskeletal changes in MPS VI. The necessity is shown of examination of the parents - obligate heterozygotes and, particularly, siblings - as possible heterozygotes. A characteristic of the studied genealogies is presented.
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