SHWACHMAN-DIAMOND SYNDROME - CLINICAL, RADIOLOGICAL AND SONOGRAPHIC FINDINGS

Six children with Shwachman-Diamond syndrome have been diagnosed and t reated in our hospital since 1986. We describe the radiological and so nographic findings of this rare disease, which is characterized by met aphyseal chondrodysplasia, neutropenia and exocrine pancreatic insuffi ciency. It presents with varying extremity shortening, ''cup'' deforma tion of the ribs, metaphyseal widening and hypoplasia of the iliac bon es, as well as increased echogenicity of the normal-sized pancreas. We discuss the differential diagnosis and review the literature.