Novel phenotype of craniosynostosis and ocular anterior chamber dysgenesis with a fibroblast growth factor receptor 2 mutation

Emma McCann, Stephen B. Kaye, William Newman, Gail Norbury, Graeme C M Black, Ian H. Ellis

    Research output: Contribution to journalArticlepeer-review

    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. © 2005 Wiley-Liss, Inc.
    Original languageEnglish
    Pages (from-to)278-281
    Number of pages3
    JournalAmerican Journal of Medical Genetics. Part A
    Volume138
    Issue number3
    DOIs
    Publication statusPublished - 15 Oct 2005

    Keywords

    • Anterior chamber dysgenesis
    • Axenfeld-Rieger
    • Craniosynostosis
    • FGFR2
    • Scaphocephaly

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