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.

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