Shwachman et al (1964) described a syndrome with pancreatic insufficiency (suggesting cystic fibrosis of the pancreas but with normal sweat electrolytes and no respiratory symptoms) and pancytopenia. In one sibling group, there were 2 affected brothers and one affected female. The same syndrome was described by Nezelof and Watchi (1961) and later by other authors such as Pringle et al (1968). Goldstein described a female fraternal twin. Affected siblings were described by Burke et al. (1967). Pringle et al (1968) observed associated skeletal changes of the metaphyseal dysostosis type. These are of interest because of the digestive abnormalities (not yet well characterized) and hematologic changes in cartilage-hair hypoplasia (250250), a form of metaphyseal chondrodysplasia. The exocrine pancreas is replaced by fat, whereas the islets of Langerhans are normal.