Morquio-Ullrich's Disease: An Inborn Error of Metabolism?

Dyggve, H; Melchior, J. C.; Clausen, J.

doi:10.1136/adc.37.195.525

Cited by 93 publications

(53 citation statements)

References 15 publications

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“…This syndrome first was described by Dyggve et a1 in 1963 [124]. Its major characteristics are short-limbed dwarfism, with a short neck, barrel chest, lumbar lordosis, genu valgum, a crouching stance, and mental deficiency in some cases.…”

Section: Dyggve-melchior-clausen Syndromementioning

confidence: 97%

Genetic diseases in Lebanon

et al. 1980

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Lebanon has a high incidence of common and rare genetic diseases, due probably to the mosaic different ethnic origins and the high rate of consanguineous marriages in certain communities. Two major investigations, exploring the genetic structure of the Lebanese population, indicated the population to be caucasiods (though Oriental traits were found). These investigations involved studies of dermatoglyphics, and type and distribution of genetic markers and protein variants. Recorded genetic diseases, some characteristic of ethnic group or particular to a geographic region include familial paroxysmal polyserositis, familial hypercholesterolemia, hypothroidism, the Dyggve-Melchoir-Clausen syndrome, Sandhoff disease, and various genetic hematologic diseases. Genetic counseling and care to patients with genetic diseases is available in Beirut from the Faculty of Medicine at American University and St. Joseph University. Also, the Lebanese National Council for Scientific Research initiates and finances medical genetics programs.

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Section: Dyggve-melchior-clausen Syndromementioning

confidence: 97%

Genetic diseases in Lebanon

et al. 1980

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“…The mucopolysaccharides found to be excreted in these diseases are not resistant to hyaluronidase. A somewhat raised excretion has been noted in some cases of Morquio-Brailsford-Ullrich syndrome (Zellweger et al, 1961;Maroteaux and Lamy, 1961;Dyggve, Melchior and Clausen, 1962;Sanfilippo and Good, 1962). Three cases have been reported to excrete a considerable proportion of keratosulphate (Pedrini, Lennzi and Zambotti, 1962).…”

Section: Discussionmentioning

confidence: 85%

Diagnostic Value of Isolated Urinary Mucopolysaccharides and Lymphocyte Inclusions in Gargoylism

1963

JAMA

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“…Dyggve, Melchior, and Clausen (1962) have described the Morquio-Ullrich syndrome where the radiological and clinical changes resemble those in Morquio's disease but there is severe mental retardation, and the urine contains dermatan sulphate accompanied by keratan sulphate. Rallo and Infante (1968) have discussed the possibility that progressive myoclonus epilepsy is another type of mucopolysaccharidosis.…”

Section: Classification Of the Mucopolysaccharidosesmentioning

confidence: 99%