释义 |
polydystrophic dwarfism polydystrophic dwarfism (1) Mucopolysaccharidosis (MPS). (2) MPS III, Sanfilippo syndrome type A, B, C, and D: • MPS IIIA (OMIM:25290); • MPS IIIB (OMIM:228920); • MPS IIIC (OMIM:228930); • MPS IIID (OMIM:228940). (3) MPS VI (OMIM:253200); Maroteaux-Lamy syndrome.Maroteaux, Pierre, French medical geneticist, 1926–. Maroteaux syndrome - metaphyseal dysostosis of the knees.Maroteaux-Lamy syndrome - an error of mucopolysaccharide metabolism characterized by excretion of dermatan sulfate in the urine, growth retardation, and skeletal deformities. Synonym(s): polydystrophic dwarfism; type VI mucopolysaccharidosisMaroteaux-Spranger-Wiedemann syndrome - genetic defects. |