GARGOYLISM (DYSOSTOSIS MULTIPLEX): TWO ADULT CASES WITH ONE AUTOPSY

Abstract

Case Reports1 February 1952GARGOYLISM (DYSOSTOSIS MULTIPLEX): TWO ADULT CASES WITH ONE AUTOPSYEDWARD B. SMITH, M.D., THEODORE C. HEMPELMANN, M.D., SHERWOOD MOORE, M.D., DAVID P. BARR, M.D., F.A.C.P.EDWARD B. SMITH, M.D., THEODORE C. HEMPELMANN, M.D., SHERWOOD MOORE, M.D., DAVID P. BARR, M.D., F.A.C.P.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-36-2-652 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptGargoylism is a heritable and congenital condition, attributable at least in part to defects in cartilaginous development which lead to dwarfism and to numerous characteristic deformities of the skeleton. The osseous abnormalities were first described by Hunter1in 1917. Two years later Hurler2reported cases with similar deformities and with cloudiness of the corneae and mental deficiency. Husler,3who is responsible for the name "dysostosis multiplex," included the condition described by Hurler in his group of degenerative dysostoses. English writers coined the term "gargoylism."4, 5, 6, 7, 8There is some confusion in the literature in both designation and description:...Bibliography1. Hunter C: Rare disease in two brothers, Proc. Roy. Soc. Med. 10: 1, 104, 1917. Google Scholar2. Hurler G: Über einen Typ multipler Abartungen, vorwiegend am Skelettssystem, Ztschr. f. Kinderh. 24: 220, 1919. CrossrefGoogle Scholar3. Husler J: Handbuch der Kinderheil., 4th Ed., Vol. 1, p. 651. Google Scholar4. Cockayne EA: Gargoylism (chondro-osteodystrophy, hepatosplenomegaly, deafness in two brothers), Proc. Roy. Soc. Med. 30: 10, 107, 1936. Google Scholar5. Ellis RW: Gargoylism (chondro-osteodystrophy, corneal opacities, hepatosplenomegaly, and mental deficiency), Proc. Roy. Soc. Med. 30: 158, 1936. CrossrefMedlineGoogle Scholar6. Tombleson JB: Gargoylism (chondro-osteodystrophy), Proc. 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Reilly WA: The granules in the leukocytes in gargoylism, Am. J. Dis. Child. 62: 489, 1941. Google Scholar28. HalperinCurtis SLGM: The genetics of gargoylism, Am. J. Ment. Deficiency 46: 298, 1942. Google Scholar29. Boyd E: The weight of the thymus gland in health and disease, Am. J. Dis. Child. 43: 1162, 1932. Google Scholar30. Wolff D: Microscopic study of temporal bones in dysostosis multiplex (gargoylism), Laryngoscope 52: 218, 1942. CrossrefGoogle Scholar31. Stockard CR: Internal constitution and genic factors in growth determination, Symposia on Quantitative Biology, Cold Springs Harbor, 2: 118, 1934. CrossrefGoogle Scholar32. ToddLyon TWDW: Cranial suture closure, Am. J. Phys. Anthropol. 8: 23, 1925. CrossrefGoogle Scholar33. ToddLyon TWDW: Endocranial suture closure, Am. J. Phys. Anthropol. 7: 325, 1924. CrossrefGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: *Received for publication January 22, 1951.From the Departments of Pathology, Pediatrics, Radiology, and Medicine of Washington University School of Medicine, St. Louis.†Department of Pathology, Indiana University Medical Center, Indianapolis, Indiana.‡Deceased.§Department of Medicine, Cornell University Medical School, New York, N. Y. 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