Article
Skull base morphology in fibroblast growth factor receptor type 2-related faciocraniosynostosis: a descriptive analysis.
Neurosurgery - 1 May 2015
Coll Guillaume, Arnaud Eric, Collet Corinne, Brunelle Francis, Sainte-Rose Christian, Di Rocco Federico
Abstract excerpt
BACKGROUND: Children with faciocraniosynostosis present skull base abnormalities and may develop hydrocephalus or cerebellar tonsils ectopia (CTE). Several pathophysiological hypotheses were formulated in the past decades to explain these associations. However, no study has described in a genetically homogeneous population with confirmed fibroblast growth factor receptor type 2 (FGFR2) mutation eventual...
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