Skip Navigation, or press ALT and K together and then press enter.Welcome to the OMC website. This site has been developed for both the visually impaired and non visually impaired. If you would like to use the visually impaired version of this site please go to, or press ALT and I together and then press enter

Irish Child Health Database - Peer Reviewed Papers

Database Search

Irish Child Health Database » » A » Abnormalities, Multiple/ genetics

Abnormalities, Multiple/ genetics

Your search returns 5 documents

  • 1.   Annotation: velo-cardio-facial syndrome

    This article discusses Velo-Cardio-facial syndrome and its association with psychiatric disorders

    J Child Psychol Psychiatry, Vol: 46 Page: 563-71 June 2005
    K. C. Murphy

    [Preview] [Read]

  • 2.   Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

    This case report discusses a 10 year old girl with "odd shaped" skull and family history of craniosynostois

    Ulster Med J, Vol: 70 Page: 47-50 May 2001
    J. Hughes; N. C. Nevin; P. J. Morrison

    [Preview] [Read]

  • 3.   Kidney failure in Townes-Brocks syndrome: an under recognized phenomenon?

    This article discusses kidney failure as a constituent element of the natural history of Townes-Brocks syndrome

    Am J Med Genet A, Vol: 143A Page: 2588-91 November 2007
    W. Reardon; L. F. Casserly; R. Birkenhager; J. Kohlhase

    [Preview] [Read]

  • 4.   Malpuech syndrome: facial features in the absence of clefting

    This case report discusses a girl with Malpuech Syndrome

    Clin Dysmorphol, Vol: 15 Page: 243-4 October 2006
    S. M. Finn; S. A. Lynch

    [Preview] [Read]

  • 5.   The behavioural phenotype in velo-cardio-facial syndrome

    This article discusses the behavioural phenotype in velo-cardio-facial syndrome

    J Intellect Disabil Res, Vol: 48 Page: 524-30 September 2004
    K. C. Murphy

    [Preview] [Read]