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ORIGINAL RESEARCH PEDIATRICS X E.S. Mahdi and X M.T. Whitehead ABSTRACT BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart mal- formations,choanalatresia,developmentaldelay,andgenitalandearanomalies.ThediagnosticcriteriaforCHARGEsyndromehavebeenrefined with time. However, limited reports describe skull base and craniocervical junction abnormalities. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. The aim of our study was to assess the prevalence of clival pathology in CHARGE syndrome. MATERIALS AND METHODS: In this retrospective study, the CT/MR imaging data base at a single academic children’s hospital was queried for the phrase “CHARGE syndrome” during a 17-year period (2001–2017). Electronic medical records were reviewed to confirm the diagnosis. Images were assessed for skull base anomalies, specifically clival hypoplasia and dysplasia. RESULTS: The search yielded 42 examinations (21 CTs and 21 MRIs) from 15 distinct patients (mean age, 4.1 5.6 years; range, 2 days to 19 years). CHARGE syndrome diagnosis was confirmed either by clinical and genetic testing (n 6) or by clinical diagnosis only (n 9). A coronal clival cleft was identified in 87% of patients (37 examinations, n 13 patients), either partial (53%) or complete (33%). Clival hypoplasia without clefting was present in all
American Journal of Neuroradiology – American Journal of Neuroradiology
Published: Jun 1, 2018
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