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Assessment and Evaluation of the High Risk Neonate: The NICU Network Neurobehavioral Scale
Published on: August 25, 2014
Atypical presentation of a newborn with Apert syndrome
B Spruijt1, B F M Rijken, K F M Joosten
1Dutch Craniofacial Center, Sophia Children's Hospital-Erasmus University Medical Center, Wytemaweg 80, Room SK-1202, PO Box 2060, 3015 CN, Rotterdam, The Netherlands, b.spruijt@erasmusmc.nl.
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.
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