Sudden infant death in a patient with FGFR3 P250R mutation

P S Shah; K Siriwardena; G Taylor; L Steele; P Ray; S Blaser; D Chitayat

doi:10.1002/ajmg.a.31517

Sudden infant death in a patient with FGFR3 P250R mutation

Am J Med Genet A. 2006 Dec 15;140(24):2794-6. doi: 10.1002/ajmg.a.31517.

Authors

P S Shah¹, K Siriwardena, G Taylor, L Steele, P Ray, S Blaser, D Chitayat

Affiliation

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

PMID: 17103449
DOI: 10.1002/ajmg.a.31517

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.

Publication types

Case Reports

MeSH terms

Adult
Airway Obstruction / etiology
Amino Acid Substitution
Craniosynostoses / complications
Craniosynostoses / genetics*
Craniosynostoses / pathology
Female
Humans
Infant, Newborn
Point Mutation*
Pregnancy
Receptor, Fibroblast Growth Factor, Type 3 / genetics*
Sudden Infant Death / etiology
Sudden Infant Death / genetics*
Syndrome

Substances

FGFR3 protein, human
Receptor, Fibroblast Growth Factor, Type 3