Article
Atypical presentation of a newborn with Apert syndrome.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery - 1 Mar 2015
Spruijt B, Rijken B F M, Joosten K F M, Bredero-Boelhouwer H H, Pullens B, Lequin M H, Wolvius E B, van Veelen-Vincent M L C, Mathijssen I M J
Abstract excerpt
INTRODUCTION: Apert syndrome is a rare syndrome characterized by a consistent phenotype including bilateral coronal suture synostosis with an enlarged anterior fontanel, midface hypoplasia, and complex symmetric syndactyly of hands and feet. CASE REPORT: We present a boy with Apert syndrome caused by the pathogenic c.755C > G p.Ser252Trp mutation in the FGFR2 gene with atypical characteristics, including...
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