Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

P J Anderson; D J Netherway; T C Cox; T Roscioli; D J David

doi:10.1097/01.scs.0000169000.58376.0f

Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

J Craniofac Surg. 2006 Jan;17(1):166-72. doi: 10.1097/01.scs.0000169000.58376.0f.

Authors

P J Anderson¹, D J Netherway, T C Cox, T Roscioli, D J David

Affiliation

¹ Australian Craniofacial Unit, Women's and Children's Hospital, Adelaide, Australia. haemro2@hotmail.com

PMID: 16432427
DOI: 10.1097/01.scs.0000169000.58376.0f

Abstract

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.

Publication types

Case Reports

MeSH terms

Acrocephalosyndactylia / genetics
Adenine
Adolescent
Arginine / genetics
Child, Preschool
Craniofacial Dysostosis / genetics
Craniosynostoses / genetics*
Cysteine / genetics
Cytosine
DNA Transposable Elements / genetics
Female
Follow-Up Studies
Guanine
Humans
Male
Mutation / genetics*
Receptor, Fibroblast Growth Factor, Type 2 / genetics*
Sequence Deletion / genetics
Serine / genetics
Syndrome
Thymine
Treatment Outcome
Tryptophan / genetics
Twist-Related Protein 1 / genetics*

Substances

DNA Transposable Elements
Twist-Related Protein 1
Serine
Guanine
Tryptophan
Cytosine
Arginine
Receptor, Fibroblast Growth Factor, Type 2
Adenine
Cysteine
Thymine