title: Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation.
abstract: Fibroblast growth factor receptor 2 (FGFR2) mutations are associated with syndromic and non-syndromic craniosynostoses. More recently it has been recognized that FGFR2 may have a role in the development of the anterior chamber of the eye following the finding of a specific FGFR2 mutation (p.Ser351Cys, c.1231 C --> G) with anterior chamber dysgenesis. Affected patients had a severe craniofacial phenotype and clinical course. A child with a different FGFR2 mutation (p.Ala344Ala, c1032 G --> A heterozygote), premature fusion of the sagittal suture, and an Axenfeld-Rieger anomaly but otherwise normal clinical course is reported. The case provides further evidence that FGFR2 has a role in anterior chamber embryogenesis.
authors.affiliation: Department of Clinical Genetics, Royal Liverpool Children's Hospital, Liverpool, UK. emma.mccann@rlc.nhs.uk
authors.forename: Emma
authors.initials: E
authors.lastname: McCann
authors.forename: Stephen B
authors.initials: SB
authors.lastname: Kaye
authors.forename: William
authors.initials: W
authors.lastname: Newman
authors.forename: Gail
authors.initials: G
authors.lastname: Norbury
authors.forename: Graeme C M
authors.initials: GC
authors.lastname: Black
authors.forename: Ian H
authors.initials: IH
authors.lastname: Ellis
mesh_terms: D000867:Anterior Chamber / Q000002:abnormalities*; D001139:Arnold-Chiari Malformation / Q000235:genetics; D002648:Child; D003398:Craniosynostoses / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2