Sudden infant death in a patient with FGFR3 P250R mutation.
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.
Shah
P S
PS
Department of Paediatrics, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
Siriwardena
K
K
Taylor
G
G
Steele
L
L
Ray
P
P
Blaser
S
S
Chitayat
D
D
D000328:Adult; D000402:Airway Obstruction / Q000209:etiology; D019943:Amino Acid Substitution; D003398:Craniosynostoses / Q000150:complications / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D017354:Point Mutation; D011247:Pregnancy; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D013398:Sudden Infant Death / Q000209:etiology / Q000235:genetics*; D013577:Syndrome
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3