Atypical presentation of a newborn with Apert syndrome

Childs Nerv Syst. 2015 Mar;31(3):481-6. doi: 10.1007/s00381-014-2601-6. Epub 2014 Nov 30.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Acrocephalosyndactylia* / complications
  • Acrocephalosyndactylia* / genetics
  • Acrocephalosyndactylia* / surgery
  • Adult
  • Endoscopy
  • Female
  • Follow-Up Studies
  • Humans
  • Infant, Newborn
  • Intracranial Pressure
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics
  • Respiration Disorders / etiology

Substances

  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2