gargoylism


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Hurler's syndrome

 [hoor´lerz]
the prototypical form of mucopolysaccharidosis, with a gargoyle-like face, dwarfism, severe somatic and skeletal changes, severe mental retardation, cloudy corneas, deafness, cardiovascular defects, hepatosplenomegaly, and joint contractures. It is due to a deficiency of the enzyme α-l-iduronidase, and is transmitted as an autosomal recessive trait. Called also gargoylism.

gargoylism

/gar·goyl·ism/ (gahr´goil-izm) Hurler's syndrome.

gargoylism

(gär′goil′ĭz′əm)
n.
Coarse fascies and facial dysmorphia, characteristic of children with Hurler syndrome and certain other types of mucopolysaccharidosis.

gargoylism

gar·goyl·ism

(gahr'goyl-izm)
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome (q.v.).

gargoylism

The effect of one of a number of X-linked or autosomal recessive disorders of MUCOPOLYSACCHARIDE metabolism that cause coarsening of the features, excessive hairiness and often mental retardation.

gar·goyl·ism

(gahr'goyl-izm)
A grossly offensive term describing appearance of patients suffering the constellation of symptoms and findings associated with Hurler syndrome.

gargoylism,

gargoylism

mucopolysaccharidosis I; Hurler's syndrome.