Clin Osteol 2004; 9(1): 22-26

Development of International Nomenclature of constitutional disorders of bone up to 2001 - application to the clinical practiceArticles

I. Marík, M. Kuklík, A. Maríková

International Nomenclature of Constitutional Disorders of Bone was for the first time performed by committee of experts for nomenclature of intrin­ sic disorders of bone of the European Society of Pediatric Radiology in Paris, 1969 (published in 1972). In 1977 was done the first revision and in 1983 the second revision of International Nomenclature of Constitutional Diseases of Bone (again in Paris). The third revision - 4th version - of Internatio­ nal Classification ofOsteochondrodysplasias (OCHD) was perfomed by international working group on bone dysplasias in Bad Honnef, 1991. This clas­ sification was exclusively based on radiodiagnostic criteria, grouping morphologically similar disorders according to its chondroosseous tissue deve­ lopmental disorders. Information on gene localization, defective proteins and mode of inheritance was tabulated with each entity. According to the fifth version of International Nomenclature and Classification of the Osteochondrodysplasias (1997), the families of disorders were to some extent rearranged based on recent etiopathogenetic information concerning the gene and/or protein defect in these disorders. In those disor­ ders in which the basic defect was well documented, they were regrouped into distinct families, in which the component disorders were due to mutati­ ons in the same gene. In the 4th and 5th version of International Nomenclature and Classification of OCHD, the classification of the dysostoses was neglected but the dysostosis group of disorders is in dire need of reclassification. Rapid advances have been made in identifying the molecular chan­ ges responsible for defined conditions. For these reasons a further update on the classification was appropriate and the last International Nosology and Classification of Constitutional Disorders of Bone was done in 2001. While this latest classification remains a combination of morphological and molecular groupings it is anticipated that two parallel but interacting classifications will evolve: one clinical, identifying accepted terminology or no­ sology, and the other molecular, to help further understand the pathogenesis of individual disorders. The major change in the classification has been the addition of genetically determined dysostoses to the skeletal dysplasias. The authors already used the 3rd, 4th and 5th version of International No­ menclature and Classification of OCHD to classify their own group of patients with constitutional diseases of bone. We present a group of OCHD and dysostoses classified according to the last -sixth version of Constitutional Disorders of Bone Classification in this paper.

Keywords: bone (skeletal) dysplasias

Published: June 11, 2004  Show citation