title: Shwachman-Diamond syndrome: clinical, radiological and sonographic aspects.
abstract: Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature.
authors.affiliation: Department of Pediatric Radiology, La Paz Children's Hospital, Madrid, Spain.
authors.forename: T
authors.initials: T
authors.lastname: Berrocal
authors.forename: M J
authors.initials: MJ
authors.lastname: Simón
authors.forename: I
authors.initials: I
authors.lastname: al-Assir
authors.forename: C
authors.initials: C
authors.lastname: Prieto
authors.forename: I
authors.initials: I
authors.lastname: Pastor
authors.forename: L
authors.initials: L
authors.lastname: de Pablo
authors.forename: R
authors.initials: R
authors.lastname: Lama
mesh_terms: D001853:Bone Marrow / Q000002:abnormalities*; D002648:Child; D002675:Child, Preschool; D004413:Dysostoses / Q000175:diagnosis* / Q000000981:diagnostic imaging; D010188:Exocrine Pancreatic Insufficiency / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D014463:Ultrasonography