Article
Brain malformation in syndromic craniosynostoses, a primary disorder of white matter: a review.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Dec 2007
Raybaud Charles, Di Rocco Concezio
Abstract excerpt
BACKGROUND: Syndromic craniosynostoses (Saethre-Chotzen, Pfeiffer 1, 2, 3, Apert, Crouzon, mainly) are particular in this that a single gene defect (mostly fibroblast growth factor receptor [FGFR] 2) generates different clinical phenotypes that characterize these syndromes. Significant brain abnormalities have been reported in all syndromes. However, whether these abnormalities are secondary to the bone disease...
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