title: Shwachman-Bodian-Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia.
abstract: Shwachman-Bodian-Diamond syndrome (OMIM 260400) was identified in 1964 by pediatricians Harry Shwachman, a leader in cystic fibrosis, and Louis K. Diamond, a hematologist, along with pediatrician and morbid anatomist Martin Bodian. Initially the syndrome's clinical presentation included exocrine pancreatic insufficiency (lipomatous replacement of the pancreas) and neutropenia. In 1967 skeletal changes of metaphyseal chondrodysplasia were also described, completing the triad of findings; these abnormalities are present in all affected children and should be viewed as an integral feature of the syndrome, also called Shwachman-Diamond syndrome.
authors.affiliation: Division of Pediatric Radiology, Department of Radiology, Montefiore Medical Center, 111 E. 210 St., Bronx, NY, 10467, USA, jebl1@optonline.net.
authors.forename: Terry L
authors.initials: TL
authors.lastname: Levin
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
authors.forename: Walter E
authors.initials: WE
authors.lastname: Berdon
authors.forename: Ralph S
authors.initials: RS
authors.lastname: Lachman
mesh_terms: D000293:Adolescent; D001855:Bone Marrow Diseases / Q000150:complications* / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D010188:Exocrine Pancreatic Insufficiency / Q000150:complications* / Q000000981:diagnostic imaging; D005260:Female; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000150:complications* / Q000000981:diagnostic imaging*; D008297:Male; D009503:Neutropenia / Q000150:complications*; D010009:Osteochondrodysplasias / Q000150:complications* / Q000000981:diagnostic imaging*; D011173:Portraits as Topic; D000081003:Shwachman-Diamond Syndrome; D013577:Syndrome; D014057:Tomography, X-Ray Computed