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Title
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Unilateral giant cell lesion of the jaw in Noonan syndrome
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Author
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Abstract
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| Noonan syndrome (NS) is an etiologically heterogeneous disorder caused by mutations in the RAS-MAPK signaling pathway. Noonan-Like/Multiple Giant Cell Lesion (NL/MGCL) syndrome is initially described as the occurrence of multiple gnathic giant cell lesions in patients with phenotypic features of NS. Nowadays, NS/MGCL syndrome is considered a variant of the NS spectrum rather than a distinct entity. We report the case of a 14-year-old female patient carrying a SOS1 mutation with a unilateral giant cell lesion of the right mandible. Cross-sectional imaging such as CT and MRI are not specific for the diagnosis of oral giant cell lesions. Nonetheless, intralesional scattered foci of low SI on T2-WI, corresponding to hemosiderin deposits due to hemorrhage, can help the radiologist in narrowing down the differential diagnosis of gnathic lesions in patients with NS. |
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Language
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English
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Source (journal)
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JBR-BTR / Belgische Vereniging voor Radiologie; Société belge de radiologie. - Bruxelles, 1999 - 2015
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Publication
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Bruxelles
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Société royale belge de radiologie
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2014
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ISSN
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1780-2393
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DOI
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10.5334/JBR-BTR.20
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Volume/pages
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97
(2014)
, p. 90-93
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ISI
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000350837600006
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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