@article{van der Poest Clement_Yang_Holm_Peters_2018, title={Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations}, volume={1}, url={http://jicna.org/index.php/journal/article/view/jicna-2018-100}, DOI={10.17724/jicna.2018.100}, abstractNote={<p>Hypochondroplasia is a disorder caused by FGFR3 mutations, commonly featuring short limbs and stature. Thanatophoric dysplasia, achondroplasia and Muenke syndrome are genetically related conditions with skeletal dysplasia and temporal lobe dysgenesis. We present a 6-month old boy with hypochondroplasia and epilepsy. His brain MRI revealed bilateral temporal lobe dysplasia, with redundant sulci and a rotated hippocampus. The neuroimaging findings of our case provide direct insight in the pathogenesis of the cerebral dysgenesis in FGFR3-related disorders. In addition, through this case we review the neurological spectrum of FGFR3 mutations.</p>}, number={1}, journal={Journal of the International Child Neurology Association}, author={van der Poest Clement, Emma A and Yang, Edward and Holm, Ingrid and Peters, Jurriaan M}, year={2018}, month={Feb.} }