Article Text

Download PDFPDF
An autosomal dominant syndrome of uveal colobomata, cleft lip and palate, and mental retardation.
  1. H M Kingston,
  2. P S Harper,
  3. P W Jones


    This report details a family in whom there is autosomal dominantly inherited uveal colobomata, associated eye defects, and cleft lip and palate occurring in twelve subjects over three generations. Considerable variability in expression of the gene is apparent, uveal colobomata being the most constant feature, and the full syndrome probably includes mental retardation of varying degree. The possibility of association with neural tube defect is discussed.

    Statistics from

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.