title: A case report of a patient with Pfeiffer syndrome, an FGRF 2 mutation (Trp290Cys) and unique ocular anterior segment findings.
abstract: OBJECTIVE
  To report a case of a child with Pfeiffer syndrome, unique ocular anterior segment findings and a mutation in FGFR2 (Trp290Cys).
  
  
  METHODS
  Case Report.
  
  
  RESULTS
  We describe a patient with Pfeiffer syndrome with a unique constellation of ocular anterior segment anomalies including microcornea, limbal scleralization, corectopia and glaucoma. Genomic DNA extraction was heterozygous for a G to T mutation at nucleotide 870 of the fibroblast growth factor receptor 2 gene (FGFR2) which changes tryptophan (TGG) to cysteine (TGT) at amino acid position 290 (Trp290Cys).
  
  
  CONCLUSIONS
  This case supports the association between Pfeiffer syndrome and severe ocular anterior segment anomalies, including glaucoma, and underscores the possible role that FGFR2 has in development of the anterior segment of the eye.
authors.affiliation: Department of Ophthalmology, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.
authors.forename: Gerard P
authors.initials: GP
authors.lastname: Barry
authors.forename: Betina Mucha-Le
authors.initials: BM
authors.lastname: Ny
authors.forename: Elaine H
authors.initials: EH
authors.lastname: Zackai
authors.forename: Lili
authors.initials: L
authors.lastname: Grunwald
authors.forename: Brian J
authors.initials: BJ
authors.lastname: Forbes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000235:genetics*; D000869:Anterior Eye Segment / Q000002:abnormalities*; D003315:Cornea / Q000002:abnormalities; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005865:Gestational Age; D005901:Glaucoma / Q000235:genetics; D006801:Humans; D007223:Infant; D016850:Limbus Corneae / Q000002:abnormalities; D017354:Point Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: C496353:FGFR2 protein, human; D051497:Receptor, Fibroblast Growth Factor, Type 2