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The third edition of this well-known volume amplifies in various respects the preceding editions. Although the general layout has been maintained, chapters on homocystinuria and alkaptonuria have been added and the chapter "Hurler Syndrome" has been replaced by "Mucopolysaccharidoses" since it has been learned that this syndrome consists of a number of genetic and metabolic entities. Further developments in this area can be expected as biochemical studies progress. There have been changes of attitude in other chapters. For instance the unitary concept of osteogenesis imperfecta is now abandoned as the existence of a recessive form "now seems more likely." Actually this seemed likely since Kienböck in 1915 described a girl with many fractures born to apparently healthy parents who were cousins. There have been similar cases reported since. Kaplan and Baldino in 1953 described a kindred in which nine cases of lethal or severe osteogenesis imperfecta occurred and seven of
WARKANY J. Heritable Disorders of Connective Tissue.. Am J Dis Child. 1967;113(3):400. doi:10.1001/archpedi.1967.02090180160023