Beitrag zu den polytopen, erblichen, enchondralen Dysostosen

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

“…The heredity of Morquio-Brailsford's disease and of gargoylism has been thoroughly discussed by Robinow (1958). As previously reported in similar cases (Andersen, 1937;Farrell et al, 1942;Hochheim et al, 1955; Townsend-Coles, 1954;Eichenberger, 1954) we also found consanguinity between the parents. It might be of interest to notice that our family comes from Greenland, and that similar case reports have been published from the Sudan (Townsend-Coles, 1954), in a Japanese family in California (Smith and McCort, 1958), as well as in an Armenian family (Farrell et al, 1942) and in a Negro family in the United States (Benda, 1952).…”

“…The same as A. two diseases has been published as well as descriptions of the typical findings in each condition. (de Rudder, 1942;Cocchi, 1950;Benda, 1952;Eichenberger, 1954;Hochheim, Korner and Liebe, 1955;Robinow, 1958;Zellweger et al, 1961;van Pelt, 1961). Also a transitional form between the two disorders has been described several times and most recently by Zellweger et al (1961) who proposed the name Morquio-Ullrich's disease.…”