title: Shwachman-Diamond syndrome: clinical, radiological and sonographic findings.
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 exocrine pancreatic insufficiency. It presents with varying extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, as well as increased echogenicity of the normalized pancreas. We discuss the differential diagnosis and review the literature.
authors.affiliation: Servicio de Radiología Pediatrica, Hospital Infantil La Paz, 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: D001855:Bone Marrow Diseases; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009503:Neutropenia; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D010179:Pancreas / Q000000981:diagnostic imaging; D011859:Radiography; D013577:Syndrome; D014463:Ultrasonography