![]() Note normal spheno-occipital synchondrosis ( small arrow, D and E).ĬHARGE syndrome is a systemic disorder with multiorgan involvement. Corresponding sagittal and axial CT images ( D and F) further demonstrate the unilateral left clival cleft ( large arrow, D and F) and absence of clival clefting on the contralateral side ( E). C, Axial T1WI of the same patient with a left-sided cleft ( large arrow) and normal spheno-occipital synchondrosis ( small arrow). B, Right parasagittal image shows a normal appearance of the clivus without clefting, a thin corpus callosum ( small arrow), and vermian and brain stem hypoplasia. A, Left parasagittal unilateral clival cleft ( large arrow), mild thinning of the corpus callosum ( small arrow), cerebellar vermian hypoplasia, and brain stem volume loss are illustrated. Spoiled gradient-recalled acquisition T1WI (3T MR imaging TR/TE = 6.6/2.5 ms TI = 700 ms slice thickness = 0.63 mm) from a 34-day-old boy with CHARGE syndrome shows a partial (unilateral left side) coronally oriented clival cleft in the basiocciput. Imaging studies were qualitatively examined for all visible abnormalities involving the brain, ocular and olfactory systems, temporal bones, cleft lip/palate, and the presence of clival abnormalities. Studies were reviewed in a blinded manner by a qualified pediatric neuroradiologist (M.T.W.) with >5 years of experience. CT images of the head, temporal bone, facial bone, sinuses, and/or cervical spine were acquired on a 16–detector row scanner (GE Healthcare). ![]() Axial T1WI and coronal fat-saturated T1WI of the brain were also performed in 5 MRIs after IV gadolinium administration in 5 different patients (0.1 mmol/kg of either gadoterate meglumine or gadopentetate dimeglumine ). Sagittal T1WI, axial T2WI, axial T2 fluid-attenuated inversion recovery imaging, coronal fat-saturated T2WI, and axial DTI with 7 noncollinear directions of encoding were reviewed. MR imaging studies were performed on either 1.5T or 3T scanners (Discovery MR 750 and 450 GE Healthcare, Milwaukee, Wisconsin). 7 The aim of our study was to assess the prevalence of clival pathology including clival clefts in patients with CHARGE syndrome.Īll examinations were of diagnostic quality. Recently, a coronal clival cleft has been identified in association with CHARGE syndrome. Detection of these osseous abnormalities should alert the radiologist to examine the palate, choana, eyes, ears, and olfactory centers for other signs of CHARGE syndrome. 6 The skull base and craniocervical junction abnormalities are often underrecognized in CHARGE syndrome. Phenotype and genotype correlation are required to better assess this syndrome. 5 Mutations of the CHD7 gene are present in two-thirds of patients with CHARGE syndrome. 4 The discovery of a CHARGE syndrome–associated gene, CHD7 (chromodomain helicase DNA-binding protein 7, MIM 608892), has greatly assisted syndromic prevalence estimations due to the phenotypic diversity of the disease. 2, 3 The prevalence of CHARGE syndrome was estimated to be 1/8500 live births by the Canadian Pediatric Surveillance Program. 1 Across time, there has been refinement of the diagnostic criteria to 3 major (the classic 3 C's: choanal atresia, coloboma, semicircular canal hypoplasia) and 5 minor features. The acronym CHARGE includes coloboma, heart malformation, choanal atresia, retardation of growth and/or development, genital anomalies, and ear anomalies. ABBREVIATIONS: CHARGE Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness CHD7 chromodomian helicase DNA-binding protein 7ĬHARGE syndrome is a rare genetic disorder with widespread malformations.
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