Shwachman–Bodian–Diamond syndrome: metaphyseal chondrodysplasia in children with pancreatic insufficiency and neutropenia
| Autor: | Walter E. Berdon, Terry L. Levin, Ralph S. Lachman, Outi Mäkitie |
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| Rok vydání: | 2014 |
| Předmět: |
Male
congenital hereditary and neonatal diseases and abnormalities Pediatrics medicine.medical_specialty Neutropenia Adolescent Portraits as Topic Osteochondrodysplasias Cystic fibrosis hemic and lymphatic diseases medicine Humans Lipomatosis Radiology Nuclear Medicine and imaging Hematologist Child Exocrine pancreatic insufficiency Bone Marrow Diseases Shwachman–Diamond syndrome business.industry Infant Dysostosis Syndrome respiratory system SBDS medicine.disease Shwachman-Diamond Syndrome Surgery medicine.anatomical_structure Child Preschool Pediatrics Perinatology and Child Health Exocrine Pancreatic Insufficiency Female Tomography X-Ray Computed Pancreas business |
| Zdroj: | Pediatric Radiology. 45:1066-1071 |
| ISSN: | 1432-1998 0301-0449 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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