This paper was prepared by Dr. Hall on behalf of the International Nomenclature Group. Members of the International Nomenclature Group: Peter Beighton, Cape Town, South Africa; Clair Francomano, Bethesda, USA; Andres Giedion, Zurich, Switzerland; Christine Hall, London, UK (chair); Judith Hall, Vancouver, Canada; William Horton, Portland, USA; Ilkka Kaitila, Helsinki, Finland; Debbie Krakow, Los Angeles USA; Ralph Lachman, Los Angeles, USA; Martine Le Merrier, Paris, France; Geert Mortier, Gent, Belgium; Stephan Mundlos, Berlin, Germany; Andrew Poznanski, Chicago, USA; David Rimoin, Los Angeles, USA; Ravi Savarirayan, Australia; David Sillence, Sydney, Australia; Jurgen Spranger, Mainz, Germany; Andrea Superti-Furga, Zurich, Switzerland; Sheila Unger, Canada; John Washbrook, London, UK; Matt Warman, Cleveland, USA; William Wilcox, Los Angeles, USA; Robin Winter, London, UK.
International nosology and classification of constitutional disorders of bone (2001)†
Article first published online: 29 AUG 2002
Copyright © 2002 Wiley-Liss, Inc.
American Journal of Medical Genetics
Volume 113, Issue 1, pages 65–77, 15 November 2002
How to Cite
Hall, C. M. (2002), International nosology and classification of constitutional disorders of bone (2001). Am. J. Med. Genet., 113: 65–77. doi: 10.1002/ajmg.10828
- Issue published online: 10 OCT 2002
- Article first published online: 29 AUG 2002
- Manuscript Accepted: 24 JUN 2002
- Manuscript Received: 28 MAY 2002
The last International Classification of Constitutional Disorders of Bone was published in 1998. Since then rapid advances have been made in identifying the molecular changes responsible for defined conditions and new disorders are constantly being delineated. For these reasons a further update on the classification is appropriate. It has been expended to not only the osteochondrodysplasias (33 groups) but also genetically determined dysostoses (3 groups). © 2002 Wiley-Liss, Inc.