| Familial Hemophagocytic Lymphohistiocytosis in 2 Siblings With Dysmorphogenesis: A New Syndrome or an Association Between 2 Syndromes?! | |
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MedLine Citation:
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PMID: 22009007 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Hemophagocytic lymphohistiocytosis represents a rare but biologically and clinically important group of disorders. The cardinal manifestations are prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglycerides and low fibrinogen. Here we describe a case of familial hemophagocytic lymphohistiocytosis with distinct facial abnormalities including full cheeks, shallow orbits, and high arched palate, opisthotonus with clenched hands and feet; in addition to a family history of a female sibling with a similar clinical picture who died at 3 months of age. |
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Authors:
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Tarek Alsaied; Lama Charafeddine; Mariam Rajab; Samar Muwakkit |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-10-15 |
Journal Detail:
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Title: Journal of pediatric hematology/oncology Volume: - ISSN: 1536-3678 ISO Abbreviation: - Publication Date: 2011 Oct |
Date Detail:
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Created Date: 2011-10-19 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9505928 Medline TA: J Pediatr Hematol Oncol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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*Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center †Makassed General Hospital ‡Department of Pediatrics and Adolescent Medicine, Children Cancer Center of Lebanon American University of Beirut Medical Center, Beirut, Lebanon. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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