Article Text

Download PDFPDF

  1. K. Kozlowski,
  2. J. S. Yu

    A Variant Form with Visceral Manifestations


    The history of a 3-year-old boy is presented who has clinical and radiological features of pycnodysostosis. He also suffers from haematological and visceral complications suggestive of osteopetrosis, which have not previously been described in pycnodysostosis. This variant form of dense bone disease appears to provide the clinical link between pycnodysostosis and osteopetrosis and shows yet another example of phenotypic and perhaps genotypic heterogeneity in metabolic diseases.

    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.

    A Variant Form with Visceral Manifestations