title: Variable phenotypes in Greig cephalopolysyndactyly sydrome (GCPS) and their relevance to plastic surgery.
abstract: BACKGROUND
  Greig cephalopolysyndactyly syndrome (GCPS) is an uncommon entity characterised by polysyndactyly and craniofacial features. The syndrome is not defined by classic signs. Instead there is a high variability in phenotypes observed. This is due to the large number of different mutations in the glioma-associated oncogene 3 (GLI3) that can give rise to the syndrome. We present a case series of five un-related individuals with GCPS treated in our hand surgery unit with different phenotype presentations of GCPS.
  
  
  CONCLUSIONS
  An awareness of the diversity in phenotypes is important for diagnosis and early referral for genetic confirmation and counselling.
authors.affiliation: Children's University Hospital, Temple Street, Dublin, Ireland. currant@tcd.ie.
authors.forename: T A
authors.initials: TA
authors.lastname: Curran
authors.affiliation: Children's University Hospital, Temple Street, Dublin, Ireland.
authors.forename: K
authors.initials: K
authors.lastname: Cronin
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D002675:Child, Preschool; D006801:Humans; D007223:Infant; D051741:Kruppel-Like Transcription Factors / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D009419:Nerve Tissue Proteins / Q000235:genetics; D010641:Phenotype; D019651:Plastic Surgery Procedures / Q000379:methods*
chemical_list: D051741:Kruppel-Like Transcription Factors; D009419:Nerve Tissue Proteins
keywords: Congenital hand deformity; GCPS; Polydactyly; Syndactyly