Sclerosing bone dysplasias: genetic and radioclinical features (original) (raw)

Abstract.

Although knowledge of basic genetics in the field of sclerosing bone dysplasias is progressing, the radiologist still plays a pivotal role in the diagnosis of this relatively poorly understood group of disorders. Based on a target site approach, these anomalies are classified into three groups. Within each group, further differentiation can be made by distinctive clinical findings and by mode of inheritance: (a) dysplasias of endochondral bone formation: osteopetrosis (Albers-Schönberg disease), pycnodysostosis, enostosis, osteopoikilosis, osteopathia striata (Voorhoeve disease); (b) dysplasias of intramembranous bone formation: progressive diaphyseal dysplasia (Camurati-Engelmann disease) and variants, hyperostosis corticalis generalisata (Van Buchem disease) and variants; and (c) mixed sclerosing dysplasias: melorheostosis (Leri disease) and overlap syndromes.

Access this article

Log in via an institution

Subscribe and save

Buy Now

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

Author information

Authors and Affiliations

  1. Department of Radiology, University Hospital Antwerp, Wilrijkstraat 10, B-2650 Edegem, , , , , , BE
    F. M. Vanhoenacker, L. H. De Beuckeleer & A. M. De Schepper
  2. Department of Medical Genetics, University of Antwerp, Universiteitsplein 1, B-2610 Antwerp, Belgium, , , , , , BE
    W. Van Hul & W. Balemans
  3. Department of Radiology, Dr. Janssen Ziekenhuis, Urkerweg 1, NL-8303 Emmeloord BA, The Netherlands, , , , , , NL
    G. J. Tan
  4. Warren G. Magnuson Clinical Center, Department of Diagnostic Radiology, National Institutes of Health, Bethesda, Maryland 20892–1182, USA, , , , , , US
    S. C. Hill

Authors

  1. F. M. Vanhoenacker
    You can also search for this author inPubMed Google Scholar
  2. L. H. De Beuckeleer
    You can also search for this author inPubMed Google Scholar
  3. W. Van Hul
    You can also search for this author inPubMed Google Scholar
  4. W. Balemans
    You can also search for this author inPubMed Google Scholar
  5. G. J. Tan
    You can also search for this author inPubMed Google Scholar
  6. S. C. Hill
    You can also search for this author inPubMed Google Scholar
  7. A. M. De Schepper
    You can also search for this author inPubMed Google Scholar

Additional information

Received: 11 January 2000; Revised: 5 April 2000; Accepted: 6 April 2000

Rights and permissions

About this article

Cite this article

Vanhoenacker, F., De Beuckeleer, L., Van Hul, W. et al. Sclerosing bone dysplasias: genetic and radioclinical features.Eur Radiol 10, 1423–1433 (2000). https://doi.org/10.1007/s003300000495

Download citation