TY - JOUR T1 - Macrocerebellum in Achondroplasia: A Further CNS Manifestation of <em>FGFR3</em> Mutations? JF - American Journal of Neuroradiology JO - Am. J. Neuroradiol. DO - 10.3174/ajnr.A6369 AU - H.M. Pascoe AU - J.Y.-M. Yang AU - J. Chen AU - A.M. Fink AU - S. Kumbla Y1 - 2019/12/19 UR - http://www.ajnr.org/content/early/2019/12/19/ajnr.A6369.abstract N2 - SUMMARY: Achondroplasia is the result of a mutation in the fibroblast growth factor receptor 3 gene (FGFR3). Appearances suggestive of macrocerebellum have not been described in this patient group. We retrospectively reviewed MR imaging studies of the brain in 23 children with achondroplasia. A constellation of imaging findings that are recognized in macrocerebellum was observed, including cerebellar hemisphere enlargement (inferior and superior extension, wrapping around the brainstem); an effaced retro- and infravermian cerebellar subarachnoid CSF space; a shortened midbrain; distortion of the tectal plate; and mass effect on the brainstem. All MR imaging studies exhibited some of these findings. Quantitative analysis confirmed an increased cerebellar volume compared with age- and sex-matched controls. We hypothesized that this may be due to direct effects of the FGFR3 mutation on cerebellar morphogenesis.PCFposterior cranial fossaPCFBVposterior cranial fossa brain volumeSTBVsupratentorial brain volume ER -