Abstract
We discuss a patient with Pfeiffer syndrome who had a tracheal sleeve and an FGFR2 mutation. In the light of our findings, and previous reports of patients with craniosynostosis that also reported similar mutations, we suggest that genomic screening for FGFR2 may be useful in cases with negative FGFR2 mutation testing.
Publication types
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Case Reports
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Comment
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Letter
MeSH terms
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Abnormalities, Multiple / genetics
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Abnormalities, Multiple / pathology
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Acrocephalosyndactylia / genetics*
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Acrocephalosyndactylia / pathology
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Craniosynostoses / genetics*
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Craniosynostoses / pathology
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Female
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Humans
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Infant
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Receptor Protein-Tyrosine Kinases / genetics*
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Receptor, Fibroblast Growth Factor, Type 2
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Receptors, Fibroblast Growth Factor / genetics*
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Trachea / abnormalities*
Substances
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Receptors, Fibroblast Growth Factor
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FGFR2 protein, human
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Receptor Protein-Tyrosine Kinases
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Receptor, Fibroblast Growth Factor, Type 2