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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes

✍ Scribed by Rutland, Paul; Pulleyn, Louise J.; Reardon, William; Baraitser, Michael; Hayward, Richard; Jones, Barry; Malcolm, Sue; Winter, Robin M.; Oldridge, Michael; Slaney, Sarah F.


Book ID
109915172
Publisher
Nature Publishing Group
Year
1995
Tongue
English
Weight
429 KB
Volume
9
Category
Article
ISSN
1061-4036

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We have studied an infant with cloverleaf skull, proptosis, radioulnar synostosis and broad thumbs and great toes diagnosed as Pfeiffer syndrome type 2. However, there were many overlapping findings with Antley-Bixler syndrome. The patient was found to have a G to T mutation in codon 290 exon 7 of t