%0 Journal Article %A S.A. Manikkam %A K. Chetcuti %A K.B. Howell %A R. Savarirayan %A A.M. Fink %A S.A. Mandelstam %T Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias %D 2018 %R 10.3174/ajnr.A5468 %J American Journal of Neuroradiology %P 380-384 %V 39 %N 2 %X SUMMARY: Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All children demonstrated a deep transverse temporal sulcus on MR imaging. Further common neuroimaging findings were incomplete hippocampal rotation (12 children), oversulcation of the mesial temporal lobe (11 children), loss of gray-white matter differentiation of the mesial temporal lobe (5 children), and a triangular shape of the temporal horn (6 children). These appearances are very similar to those described in hypochondroplasia, strengthening the association of temporal lobe malformations in FGFR3-associated skeletal dysplasias.FGFR3fibroblast growth factor receptor 3 %U https://www.ajnr.org/content/ajnr/39/2/380.full.pdf