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Sudden infant death in a patient with FGFR3 P250R mutation

Authors

  • P.S. Shah,

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

    1. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    2. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • G. Taylor,

    1. Division of Laboratory Medicine and Pathobiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • L. Steele,

    1. Division of Laboratory Medicine and Pathobiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • P. Ray,

    1. Division of Laboratory Medicine and Pathobiology, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • S. Blaser,

    1. Division of Neuroradiology, Department of Diagnostic Imaging, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
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  • D. Chitayat

    Corresponding author
    1. The Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada
    2. Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada
    • The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Ontario Hydro Generation Building, 700 University Avenue, 3rd floor, Rm. 3292, Toronto, Ont., Canada.
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  • How to cite this article: Shah PS, Siriwardena K, Taylor G, Steele L, Ray P, Blaser S, Chitayat D. 2006. Sudden infant death in a patient with FGFR3 P250R mutation. Am J Med Genet Part A 140A:2794–2796.

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. © 2006 Wiley-Liss, Inc.

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