TY - JOUR AU - van der Poest Clement, Emma A AU - Yang, Edward AU - Holm, Ingrid AU - Peters, Jurriaan M PY - 2018/02/14 Y2 - 2024/03/28 TI - Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations JF - Journal of the International Child Neurology Association JA - JICNA VL - 1 IS - 1 SE - Case Reports and Series DO - 10.17724/jicna.2018.100 UR - http://jicna.org/index.php/journal/article/view/jicna-2018-100 SP - AB - <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> ER -