DYSOSTOSIS MULTIPLEX (HURLER'S DISEASE; LIPOCHONDRODYSPLASIA ; GARGOYLISM)

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Abstract
Dysostosis multiplex is a rare disease of congenital origin characterized by chondrodystrophic skeletal changes and deposition of a lipid-like substance in many of the body tissues. The typical picture is that of dwarfism with deformity of the limbs and enlargement of the liver and spleen. The head is large, the orbits widely spread and the root of the nose broad and depressed. The alveolar processes are large and the tongue thick and fleshy. The neck is very short, the spine kyphotic and the belly protuberant. In a majority of the cases there is a corneal haze present. Because of the characteristic large head and grotesque inhuman facies, Ellis, Sheldon and Capon 1 in 1936 suggested the name gargoylism for the disease. Ocular signs are both interesting and diagnostically important in over three fourths of the cases and are important from a prognostic standpoint. The condition is not mentioned in textbooks

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