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Sudden infant death in a patient with FGFR3 P250R mutation
P S Shah1, K Siriwardena, G Taylor
1Department of Paediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
American Journal of Medical Genetics. Part A
|November 15, 2006
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.
