TY - JOUR T1 - Clival Malformations in CHARGE Syndrome JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. SP - 1153 LP - 1156 DO - 10.3174/ajnr.A5612 VL - 39 IS - 6 AU - E.S. Mahdi AU - M.T. Whitehead Y1 - 2018/06/01 UR - http://www.ajnr.org/content/39/6/1153.abstract N2 - BACKGROUND AND PURPOSE: CHARGE syndrome is a multisystemic congenital disorder, most commonly including coloboma, heart malformations, choanal atresia, developmental delay, and genital and ear anomalies. The diagnostic criteria for CHARGE syndrome have been refined 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 5 examinations from the remaining 2 patients.CONCLUSIONS: Clival pathology is universal in CHARGE syndrome. Coronal clival clefts are extremely common, representing a useful additional diagnostic finding. Detection of a clival cleft should alert the radiologist to examine the palate, choana, eyes, ears, and olfactory centers for other signs of CHARGE syndrome.CHARGEColoboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafnessCHD7chromodomian helicase DNA-binding protein 7 ER -