The authors have no conflicts of interest to declare.
Article first published online: 19 NOV 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 12, pages 3119–3125, December 2012
How to Cite
Linnankivi, T., Mäkitie, O., Valanne, L. and Toiviainen-Salo, S. (2012), Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation. Am. J. Med. Genet., 158A: 3119–3125. doi: 10.1002/ajmg.a.35642
How to Cite this Article: Linnankivi T, Mäkitie O, Valanne L, Toiviainen-Salo S. 2012. Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation Am J Med Genet Part A 158A: 3119–3125.
- Issue published online: 22 NOV 2012
- Article first published online: 19 NOV 2012
- Manuscript Accepted: 2 AUG 2012
- Manuscript Received: 2 JUN 2012
- skeletal dysplasia;
- temporal lobe dysgenesis;
- intellectual disability
Hypochondroplasia (HCH), an autosomal dominant skeletal dysplasia caused by mutations in the FGFR3 gene, has not been commonly associated with neurological problems. Temporal lobe dysgenesis associated with epilepsy was recently described in single patients. In this retrospective study, we assessed neurological and neuroimaging aspects of 13 FGFR3 (N540K) mutation verified HCH patients in Finland. Eight patients had neurocognitive difficulties, ranging from specific learning disorder (2/13) to mild intellectual disability (5/13) or global developmental delay (1/13). Six of 13 patients had a history of seizures or epilepsy. Eight patients had undergone MRI. They all had structural abnormalities consistent with temporal lobe dysgenesis. Six patients had peritrigonal white matter reduction, and 4 had abnormally shaped lateral ventricles. We recommend a close follow-up of development in patients with HCH and a low threshold for neuroimaging. © 2012 Wiley Periodicals, Inc.