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(2007)
Proceedings of the Royal Society of Medtctne Gargoylism ( Chondro-osteo-dystrophy , Hepatosplenomegaly , Deafness ) in Two Brothers -
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- Publisher
- American Medical Association
- Copyright
- Copyright © 1948 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
- ISSN
- 0096-8994
- eISSN
- 1538-3628
- DOI
- 10.1001/archpedi.1948.02030020610011
- Publisher site
- See Article on Publisher Site
Abstract
SYNONYMS for this uncommon entity are Hurler's syndrome, lipochondrodystrophy and dysostosis multiplex. Gargoylism is the most commonly used descriptive term, although lipochondrodystrophy (Washington's term) is used by the Quarterly Cumulative Index Medicus. It is our purpose in this report to describe the clinical, laboratory and roentgenographic manifestations seen in 16 patients with gargoylism observed during a seventeen year period. On 8 of these 16 patients autopsy was performed. The pathologic lesions observed will be reported at a later date in this journal; they indicate that gargoylism may result from a disorder in carbohydrate storage. Gargoylism is a disease involving most of the tissues of the body. The skeleton is greatly altered and may be the earliest site of the clinical manifestations. The disease is usually characterized by the following signs: typical facies (like a gargoyle), resembling that of cretinism; cloudy corneas; skeletal changes in both bone and cartilage; dwarfism; infantilism;
Journal
American journal of diseases of children – American Medical Association
Published: Apr 1, 1948