@article {Pascoe, author = {H.M. Pascoe and J.Y.-M. Yang and J. Chen and A.M. Fink and S. Kumbla}, title = {Macrocerebellum in Achondroplasia: A Further CNS Manifestation of FGFR3 Mutations?}, year = {2019}, doi = {10.3174/ajnr.A6369}, publisher = {American Journal of Neuroradiology}, abstract = {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}, issn = {0195-6108}, URL = {https://www.ajnr.org/content/early/2019/12/19/ajnr.A6369}, eprint = {https://www.ajnr.org/content/early/2019/12/19/ajnr.A6369.full.pdf}, journal = {American Journal of Neuroradiology} }