Craniosynostosis with tracheal sleeve: a patient with Pfeiffer syndrome, tracheal sleeve and additional malformations in whom an FGFR2 mutation was found.
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.
Zackai
Elaine H
EH
McDonald-McGinn
Donna M
DM
Stolle
Catherine
C
Huff
Dale S
DS
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000473:pathology; D003398:Craniosynostoses / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*; D014132:Trachea / Q000002:abnormalities*
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2