Spranger's syndrome II
Related people
This condition is also commonly called galeophysic dwarfism, a term referring to the unusual, pleasant, and happy face which is one of the main characteristics of this syndrome. Long list of other characteristics includes disproportionate shortness of stature, particularly affecting the hands and feet, frequently, slightly retarded psychomotor development, and evidence of cardiac valvulopathies.
Bibliography
- P. W. Vanace, S. Friedman, B. M. Wagner:
Mitral stenosis in atypical case of gargoylism: A case report with pathologic and histochemical studies of the cardiac tissues.
Circulation, Dallas, Texas, 1960, 21: 80-98.
- J. W. Springer, et al:
Galeophysic dwarfism – A “focal” mucopolysaccharidosis?
Lancet, London, 1971, 2: 97-98.
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