gargoyle face

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gargoyle face2016-10-22T14:49:40+00:00

gargoyle face 

gargoyle image from New Medical Terms

gargoyle

METABOLISM

Gargoyle face is a popular term for the characteristic face of gargoylism, now known as mucopolysaccharidoses–MPS. The classic gargoyle face is seen in MPS type I-H/Hurler syndrome and in MPS type IV/Morquio syndrome and characterised by thickening and coarsening of facial features due to subcutaneous deposition of MPSs, most commonly seen after the first year of age; the head is large and dolichocephalic, with frontal bossing and prominent sagittal and metopic sutures, with mid-face hypoplasia, depressed nasal bridge, flared nares, and a prominent lower third of the face, thickened facies, widely spaced teeth and attenuated dental enamel, gingival hyperplasia 

gargoyle appearance image from New Medical TermsDifferential diagnosis, gargolye face Cherry red spot myoclonus syndrome, Coffin-Siris syndrome, GM1 gangliosidosis, Goldberg syndrome, hyperimmunoglobulin E syndrome, hypothyroidism, Kniest syndrome, mannosidosis type II, mucolipidosis/I-cell disease, MPS I-S/Scheie syndrome, MPS II/Hunter syndrome, and MPS III/Sanfilippo syndrome, multiple neuroma syndrome, multiple sulfatase deficiency, Robinow syndrome, Rolland-Desbuquios syndrome, sialic acid storage disease with sialuria, sialidosis type II, Sotos’ syndrome, Williams syndrome 

Note: Gargoyles are mythical animals, fantastic beasts, or grotesque humans that project from the gutters of Gothic buildings; the term arrived to Middle English in 1412, via Spanish, gargola, throat

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