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Sudden infant death in a patient with FGFR3 P250R mutation
Author(s) -
Shah P.S.,
Siriwardena K.,
Taylor G.,
Steele L.,
Ray P.,
Blaser S.,
Chitayat D.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31517
Subject(s) - medicine , mutation , craniofacial , sudden death , sudden infant death syndrome , pediatrics , craniosynostosis , airway obstruction , airway , gene , genetics , biology , anatomy , surgery , psychiatry
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.