Hurler–Scheie syndrome — (also known as Mucopolysaccharidosis type I H S ) is a cutaneous condition, also characterized by mild mental retardation and corneal clouding.[1] See also Scheie syndrome List of cutaneous conditions References ^ Rapini, Ronald P.; Bolognia,… … Wikipedia
Hurler's syndrome — Hur·ler s syndrome hər lərz , hu̇r or Hur·ler syndrome hər lər , hu̇r n a mucopolysaccharidosis that is inherited as an autosomal recessive trait and is characterized by deformities of the skeleton and features, hepatosplenomegaly, restricted… … Medical dictionary
Hurler-Scheie syndrome — Hur·ler Scheie syndrome (hurґlər shaґ) [G. Hurler; Harold G. Scheie, American ophthalmologist, 1909–1990] see under syndrome … Medical dictionary
Hurler-Scheie syndrome — Although clinically distinct diseases, fibroblasts from patients with Hurler s and with Scheie syndrome do not cross complement in culture, suggesting that the enzyme defect is the same … Dictionary of molecular biology
Hurler-Scheie syndrome — one of the three allelic disorders of mucopolysaccharidosis I, with clinical features intermediate between the Hurler and the Scheie syndromes, caused by deficiency of L iduronidase, and specifically characterized by receding chin (micrognathism) … Medical dictionary
Hurler's syndrome — [ hə:ləz] noun Medicine a defect in metabolism arising from congenital absence of an enzyme, resulting in mental retardation, a protruding abdomen, and an abnormally large head. Origin 1930s: named after the Austrian paediatrician Gertrud Hurler … English new terms dictionary
Hurler's syndrome — n. Med. a defect in metabolism resulting in mental retardation, a protruding abdomen, and deformities of the bones, including an abnormally large head. Also called GARGOYLISM. Etymology: G. Hurler, Ger. paediatrician … Useful english dictionary
Hurler's syndrome — ▪ pathology also called Gargoylism, or Mucopolysaccharidosis I, one of several rare genetic disorders involving a defect in the metabolism of mucopolysaccharides, the class of polysaccharides that bind water to unite cells and to… … Universalium
Hurler syndrome — Classification and external resources ICD 10 E76.0 ICD 9 277.5 … Wikipedia
Hurler syndrome — An inherited error of metabolism in which there is deficiency of the enzyme alpha L iduronidase which normally breaks down molecules called mucopolysaccharides. Without the activity of this enzyme, there is an abnormal accumulation of… … Medical dictionary
