Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?
We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single mutation.
Anderson
P J
PJ
Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, Australia. haemro2@hotmail.com
Netherway
D J
DJ
Cox
T C
TC
Roscioli
T
T
David
D J
DJ
D000168:Acrocephalosyndactylia / Q000235:genetics; D000225:Adenine; D000293:Adolescent; D001120:Arginine / Q000235:genetics; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics; D003398:Craniosynostoses / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D003596:Cytosine; D004251:DNA Transposable Elements / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006147:Guanine; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics; D012694:Serine / Q000235:genetics; D013577:Syndrome; D013941:Thymine; D016896:Treatment Outcome; D014364:Tryptophan / Q000235:genetics; D051879:Twist-Related Protein 1 / Q000235:genetics*
D004251:DNA Transposable Elements; D051879:Twist-Related Protein 1; D012694:Serine; D006147:Guanine; D014364:Tryptophan; D003596:Cytosine; D001120:Arginine; D051497:Receptor, Fibroblast Growth Factor, Type 2; D000225:Adenine; D003545:Cysteine; D013941:Thymine