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Abstract

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.

Article Details

Author Biographies

Emma A van der Poest Clement, Boston Children's Hospital & Harvard Medical School

Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital

Edward Yang, Boston Children's Hospital & Harvard Medical School

Department of Radiology

Ingrid Holm, Boston Children's Hospital & Harvard Medical School

Division of Genetics and Genomics

Jurriaan M Peters, Boston Children's Hospital & Harvard Medical School

Division of Epilepsy and Clinical Neurophysiology, Boston Children's Hospital
How to Cite
van der Poest Clement, E. A., Yang, E., Holm, I., & Peters, J. M. (2018). Hypochondroplasia and epilepsy: the neurological spectrum of FGFR3 mutations. Journal of the International Child Neurology Association. https://doi.org/10.17724/jicna.2018.100