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Keywords:

  • craniosynostosis;
  • sudden unexpected death;
  • infancy;
  • Muenke syndrome

Abstract

P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities. We report a family with this mutation associated with sudden death in an affected newborn, most probably due to upper airway obstruction. © 2006 Wiley-Liss, Inc.