Article
Crouzon syndrome with acanthosis nigricans: a case-based update.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2011
Di Rocco Federico, Collet Corinne, Legeai-Mallet Laurence, Arnaud Eric, Le Merrer Martine, Hadj-Rabia Smail, Renier Dominique
Abstract excerpt
BACKGROUND: Crouzon syndrome with acanthosis nigricans also named Crouzono-dermo-skeletal is a clinically and genetically distinct entity. It associates a craniofacial phenotype to anomalies of the skin and long bones. This syndrome is due to a specific mutation in FGFR3 gene that can be identified by genetic testing. ILLUSTRATIVE CASES: As in our two patients, not all these features might be present and some...
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