SHWACHMAN-DIAMOND SYNDROME - CLINICAL, RADIOLOGICAL AND SONOGRAPHIC ASPECTS

Six children with Shwachman-Diamond syndrome have been diagnosed and t reated in our hospital since 1986. We describe the radiological and so nograph ic findings of this rare disease which is characterized by met aphyseal chondrodysplasia, neutropenia and pancreatic exocrine insuffi ciency. It presents with variable extremity shortening, ''cup'' deform ation of the ribs, metaphyseal widening and hypoplasia of the iliac bo nes, and increased echogenicity of the pancreas without change in size . We discuss the differential diagnosis and review the literature.