Medial temporal lobe dysgenesis in hypochondroplasia
Version of Record online: 12 OCT 2005
Copyright © 2005 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 138A, Issue 4, pages 389–391, 1 November 2005
How to Cite
Kannu, P., Hayes, I. M., Mandelstam, S., Donnan, L. and Savarirayan, R. (2005), Medial temporal lobe dysgenesis in hypochondroplasia. Am. J. Med. Genet., 138A: 389–391. doi: 10.1002/ajmg.a.30974
- Issue online: 19 OCT 2005
- Version of Record online: 12 OCT 2005
- Manuscript Accepted: 16 AUG 2005
- Manuscript Received: 22 DEC 2004
- thanatophoric dysplasia;
We describe two patients who have hypochondroplasia with medial temporal lobe dysgenesis. This association has only been reported once before. Both patients had an FGFR3 mutation: 1620C A, resulting in Asn540Lys. FGFR3 is expressed in the brain during development and plays a role in hippocampal formation. We suggest FGFR3 mutations might cause cerebral malformations in hypochondroplasia as well as in thanatophoric dysplasia. Further neuroimaging studies of patients with hypochondroplasia and epilepsy or developmental delay may clarify the proportion of patients with hypochondroplasia who have this pattern of central nervous system abnormalities. © 2005 Wiley-Liss, Inc.