Shwachman–Diamond Syndrome

In 1964, five patients showing evidence of exocrine pancreatic insufficiency and leucopenia were described (Shwachman et al, 1964). The syndrome, later termed Shwachman–Diamond syndrome (SDS), was described earlier by Nezelof & Watchi (1961) and a few months later by Bodian et al (1964). Burke et al (1967) and Pringle et al (1968) observed associated skeletal changes of the metaphyseal dysostosis type, which became the third fundamental feature...