PubMed · 1987489
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B M Rothschild, P L Thillaud. 1991-01-24. Oldest bone disease.. https://doi.org/10.1038/349288a0
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The objective of the paper is to provide the revision of the Nosology of Constitutional Disorders of Bone that incorporates newly recognized disorders and reflects new molecular and pathogenetic concepts. Criteria for inclusion of disorders were (1) significant skeletal involvement corresponding to the definition of skeletal dysplasias, metabolic bone disorders, dysostoses, and skeletal malformation and/or reduction syndromes, (2) publication and/or MIM listing, (3) genetic basis proven or very likely, and (4) nosologic autonomy confirmed by molecular or linkage analysis and/or distinctive diagnostic features and observation in multiple individuals or families. Three hundred seventy-two different conditions were included and placed in 37 groups defined by molecular, biochemical and/or radiographic criteria. Of these conditions, 215 were associated with one or more of 140 different genes. Nosologic status was classified as final (mutations or locus identified), probable (pedigree evidence), or bona fide (multiple observations and clear diagnostic criteria, but no pedigree or locus evidence yet). The number of recognized genetic disorders with a significant skeletal component is growing and the distinction between dysplasias, metabolic bone disorders, dysostoses, and malformation syndromes is blurring. For classification purposes, pathogenetic and molecular criteria are integrating with morphological ones but disorders are still identified by clinical features and radiographic appearance. Molecular evidence leads to confirmation of individual entities and to the constitution of new groups, but also allows for delineation of related but distinct entities and indicates a previously unexpected heterogeneity of molecular mechanisms; thus, molecular evidence does not necessarily simplify the Nosology, and a further increase in the number of entities and growing complexity is expected. By providing an updated overview of recognized entities with skeletal involvement and of the underlying gene defects, the new Nosology can provide practical diagnostic help, facilitate the recognition of new entities, and foster and direct research in skeletal biology and genetic disorders.
Thirty years after its introduction vascularized fibula transfer remains an important tool for all surgeons dealing with particularly challenging bone reconstruction problems. It should be a consideration when simpler approaches either have failed or are expected to fail. It is particularly indicated for the reconstruction of massive bone defects associated with sepsis and bony non-unions associated with radionecrosis. The successful execution of vascularized fibular grafting, however, requires microvascular expertise and adherence to sound orthopedic principles for bone healing, including stable internal fixation, maximal bone-to-bone coaptation, and appropriate postoperative management regarding joint mobilization and weight bearing.
Vascularized bone graft procedures have been applied to several maladies of the carpus including proximal pole fractures of the scaphoid, Preiser's disease, and Kienböck's disease. Vascularized bone grafts are capable of primary bony healing without creeping substitution and can thus accelerate fracture healing, replace deficient bone, and revascularize ischemic bone. Long-term data are now available to evaluate the benefits and deficiencies of vascularized grafts in the treatment of many carpal maladies. This article reviews the pertinent literature and provides some treatment algorithms for the use of vascularized bone grafting in cases of carpal pathology.