How to cite this article: Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D. 2006. Sudden infant death in a patient with FGFR3 P250R mutation. Am J Med Genet Part A 140A:2794–2796.
Sudden infant death in a patient with FGFR3 P250R mutation†
Article first published online: 13 NOV 2006
Copyright © 2006 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Volume 140A, Issue 24, pages 2794–2796, 15 December 2006
How to Cite
Shah, P.S., Siriwardena, K., Taylor, G., Steele, L., Ray, P., Blaser, S. and Chitayat, D. (2006), Sudden infant death in a patient with FGFR3 P250R mutation. Am. J. Med. Genet., 140A: 2794–2796. doi: 10.1002/ajmg.a.31517
- Issue published online: 21 NOV 2006
- Article first published online: 13 NOV 2006
- Manuscript Accepted: 9 SEP 2006
- Manuscript Received: 24 AUG 2006
- sudden unexpected death;
- Muenke syndrome
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.