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Am J Med Genet A. 2006 Dec 15;140(24):2794-6.

Sudden infant death in a patient with FGFR3 P250R mutation.

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  • 1Department of Paediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.


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.

(c) 2006 Wiley-Liss, Inc.

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