Article Text

PDF

A review of the osteopetroses.
  1. P. Beighton,
  2. F. Horan,
  3. H. Hamersma

    Abstract

    The osteopetroses are a group of conditions which are characterized by varying combinations of bony sclerosis and modelling defects. Classical osteopetrosis may be inherited as an autosomal dominant or autosomal recessive: the former variety is benign, heterogeneous and comparatively common, while the latter is precocious, potentially lethal and rare. Many other craniotubular dysplasias and hyperostoses are loosely grouped with the osteopetroses. The commonest of these is the autosomal dominant form of craniometaphyseal dysplasia, while the others which are well known include Pyle disease, and van Buchem disease. Sclerosteosis is a progressive condition in which massive cranial thickening is associated with syndactyly and gigantism. Each of these disorders has specific clinical and radiographic features, which permit recognition. Diagnostic accuracy is crucial for treatment, prognostication and effective genetic management.

    Statistics from Altmetric.com

    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.

    Linked Articles

    • Bone Dysplasias
      The Fellowship of Postgraduate Medicine