![]() ![]() The presence or absence of cerebellum abnormalities could not be explained by the type of CHD7 mutation or by additional variants in FGF8.Ĭonclusion: CHD7 plays a role in cerebellum development.Cerebellum defects are a clinical feature in CHARGE syndrome,being the 5th C after coloboma, choanal atresia, cranial nerve defects, and cardiac abnormalities. Furthermore, 25% of the patients had foliation abnormalities, implying additional roles for CHD7 during the process of foliation. Two patients with vermishypoplasia exhibited broad gait or ataxia, consistent with defects that disrupt cerebellar function. Patients exhibited cerebellar vermis hypoplasia, varying from slight to pronounced hypoplasia (35%), and an anticlockwise rotated vermis (35%).Fluid-filled spaces surrounding the cerebellum appeared larger: a862 AMERICAN JOURNAL OF MEDICAL GENETICS PART Alarge foramen of Magendi and fourth ventricle (50%) and large subcerebellar cistern (25%) were seen. Results: we found cerebellumab normalities in 55% of the 20 patients. FGF8 was analyzed forvariants in the same 20 patients. MRI images of CHARGE patients were compared with images of age-matched controls. Only MRI scans that allowed are liable interpretation of the cerebellum, that is the presence of sagittal and axial images of the cerebellum, were included in this study (n = 20). This prompted us to critically evaluate MRI scans of children with CHARGE syndrome for cerebellar defects.Methods: MRI scans of patients with a proven CHD7 mutation were collected and evaluated by an experienced neuroradiologist using a standard protocol. Combined lossof Chd7 and Fgf8 resulted in abnormal cerebellum development in mice. Recently, it was shown that loss ofChd7 resulted in decreased Fgf8 expression in mice. The cerebellum plays an important role in coordination of movements and balance,but little is known about the effect of CHD7 mutations on cerebellum development and function. Balance involves the complex task of integrating postural responses and multisensory (visual, labyrinthine from the semi-circular canals, and proprioceptive) feedback. Introduction and background: Children with CHARGE syndrome often have balance problems due to hypoplasia of the semicircular canals. ![]()
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