Document Detail

Neuroimaging and neurological findings in patients with hypochondroplasia and FGFR3 N540K mutation.
MedLine Citation:
PMID:  23165795     Owner:  NLM     Status:  Publisher    
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.
Tarja Linnankivi; Outi Mäkitie; Leena Valanne; Sanna Toiviainen-Salo
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-11-19
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-11-20     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2012 Wiley Periodicals, Inc.
Department of Pediatric Neurology, Children's Hospital, Helsinki University Central Hospital, University of Helsinki, Helsinki, Finland.
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