ABSTRACT
PURPOSE: The purpose of this study was to investigate the distribution of diseases and the orthopedic procedures performed in patients with genetic and metabolic bone diseases. MATERIALS AND METHODS: One hundred and fifty-three patients, who were admitted to the orthopedic ward under a diagnosis of genetic or metabolic bone disease from January 1990 to December 2000, were investigated. Their medical records, radiographs and laboratory data were reviewed, and orthopedic procedures analyzed. RESULTS: One hundred and fifty-one cases were diagnosed with specific diseases, while 2 remained unspecified. Achondroplasia, multiple epiphyseal dysplasia-pseudoachondroplasia and metaphyseal chondrodysplasia were common among the skeletal dysplasia cases. Hypophosphatemic rickets and osteogenesis imperfecta were common diseases among the metabolic and connective tissue categories. Limb lengthening was frequently performed in achondroplasia and in hypophosphatemic rickets, while deformity correction and hip surgery were frequent in multiple epiphyseal dysplasia - pseudoachondroplasia and metaphyseal chondrodysplasia. CONCLUSION: In genetic and metabolic bone diseases, only a limited number of clinical problems can be solved by orthopedic procedures. As new techniques are developed the pattern of orthopedic treatmen may change.