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Classical facial findings (chipmunk facies) in beta thalassemia

Classical facial findings (chipmunk facies) in beta thalassemia
Classical facial findings in beta thalassemia major and occasionally in beta thalassemia intermedia (referred to as "chipmunk facies") include frontal bossing, maxillary expansion, saddle nose, and depressed cranial vault. These and other skeletal changes are associated with extramedullary hematopoiesis. They occasionally occur in other conditions associated with extramedullary hematopoiesis such as other hereditary hemolytic anemias. Refer to UpToDate for more information about the clinical manifestations and diagnosis of thalassemia.
Reproduced with permission from: Singh A, Varma S. β-thalassaemia intermedia masquerading as β-thalassaemia major. BMJ Case Rep 2014. Copyright © 2014 BMJ Publishing Group Ltd.
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