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Article

Temporal and occipital lobe features in children with hypochondroplasia/FGFR3 gene mutation.

Pediatric radiology - 1 Sept 2013

Philpott Cristina M, Widjaja Elysa, Raybaud Charles, Branson Helen M, Kannu Peter, Blaser Susan

Abstract excerpt

BACKGROUND: Thanatophoric dysplasia (TD) and hypochondroplasia are both caused by FGFR3 (fibroblast growth factor receptor 3) gene mutations. Temporal lobe dysplasia has been well described in thanatophoric dysplasia; however, only a couple of anecdotal cases of temporal lobe dysplasia in hypochondroplasia have been described. OBJECTIVE: To define temporal lobe abnormalities in patients with hypochondroplasia,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23649205
DOI: 10.1007/s00247-013-2684-3

Genes

FGFR3

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