title: Atypical presentation of a newborn with Apert syndrome.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  We present a newborn with Apert syndrome with atypical craniofacial presentation.
authors.affiliation: Dutch 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.
authors.forename: B
authors.initials: B
authors.lastname: Spruijt
authors.forename: B F M
authors.initials: BF
authors.lastname: Rijken
authors.forename: K F M
authors.initials: KF
authors.lastname: Joosten
authors.forename: H H
authors.initials: HH
authors.lastname: Bredero-Boelhouwer
authors.forename: B
authors.initials: B
authors.lastname: Pullens
authors.forename: M H
authors.initials: MH
authors.lastname: Lequin
authors.forename: E B
authors.initials: EB
authors.lastname: Wolvius
authors.forename: M L C
authors.initials: ML
authors.lastname: van Veelen-Vincent
authors.forename: I M J
authors.initials: IM
authors.lastname: Mathijssen
mesh_terms: D000168:Acrocephalosyndactylia / Q000150:complications / Q000235:genetics / Q000601:surgery; D000328:Adult; D004724:Endoscopy; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007231:Infant, Newborn; D007427:Intracranial Pressure; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics; D012120:Respiration Disorders / Q000209:etiology
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2