Atypical presentation of a newborn with Apert syndrome
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 premature fusion of the metopic suture with a small anterior fontanel, hypotelorism, and a massive posterior fontanel. Directly after birth, he showed papilledema, epilepsy, and central apneas.Conclusion: We present a newborn with Apert syndrome with atypical craniofacial presentation.
|Keywords||Apert syndrome, Apnea, Craniosynostosis, Epilepsy, Intracranial pressure|
|Persistent URL||dx.doi.org/10.1007/s00381-014-2601-6, hdl.handle.net/1765/88135|
|Journal||Child's Nervous System|
Spruijt, B, Rijken, B.F.M, Joosten, K.F.M, Bredero-Boelhouwer, H.H, Pullens, B, Leguin, M, … Mathijssen, I.M.J. (2014). Atypical presentation of a newborn with Apert syndrome. Child's Nervous System, 31(3), 481–486. doi:10.1007/s00381-014-2601-6