先天性骨系統疾患の分類,名称

抄録

The term "bone dysplasias", or "constitutional diseases of bone" is used as a general term for congenital and generalized morphological and/or structural bone diseases that are caused by some failures of morphogenesis, growth or maturation of bone and/or cartilage. Most of bone dysplasias are genetic diseases. Pathogenesis of bone dysplasias is considered to be some congenital metabolic failures of bone and cartilage, but is still unknown except in few dysplasias. In 1964, Rubin advocated a dynamic classification of bone dysplasias. He considered that bone dysplasias were caused by hypoplasia or hyperplasia of anatomico-physiological function of tubular bones which he divided in 4- sections: epiphysis, physis, metaphysis and diaphysis. His classification was really unique and was easily accepted by many researchers. Since that time, however, many new dysplasias have been clarified as definite entities. In order to classify these new diseases, a draft of international nomenclature of bone dysplasias was published in 1970. Final draft of international nomenclature was published in 1978. Main purpose of this nomenclature is to standardize the criteria for diagnosis and to report under the same name all over the world. Japanese researchers must also be well acquainted with this nomenclature and have to report cases of bone dysplasias to international medical journals in English so as to join international research net-work.