title: International nomenclature of constitutional diseases of bone. Revision 1983.
abstract: The international nomenclature of Constitutional Diseases of Bone agreed on in 1977 was revised in 1983 by a Committee of experts. Some new entities were introduced and others excluded. The basis of selection was that the disorder was a definite entity confirmed by several different observers. The subdivisions proposed are not intended as a classification but are presented to add some clarity and to facilitate research in a field which is often confused by the use of different names by different authors for the same disorder. In the congenital malformation syndromes the only ones included are those in which the osseous signs are particularly characteristic and constitute an important element in their recognition. In the growth problems of the long bones and spine a new classification is proposed to include the dysplasias incompatible with life. There are some entities in which biochemical definition seems imminent (e.g. osteogenesis imperfecta) so that a subdivision is not proposed at the present time. In the metabolic abnormalities, classification is also limited by our present knowledge and is therefore restricted to those in which a specific primary disorder has been defined and is responsible for major skeletal changes. The mode of transmission, if wellfounded, has also been noted with each disorder.
mesh_terms: D001847:Bone Diseases / Q000145:classification*; D001848:Bone Diseases, Developmental / Q000145:classification; D001851:Bone Diseases, Metabolic / Q000145:classification; D001842:Bone and Bones / Q000002:abnormalities; D002869:Chromosome Aberrations / Q000145:classification; D025063:Chromosome Disorders; D006801:Humans; D009626:Terminology as Topic