Radiological, biochemical and hereditary evidence of two types of autosomal dominant osteopetrosis.

摘要: Review of the radiographs 34 patients with autosomal dominant osteopetrosis revealed two distinct phenotypical types. Both were strictly family-related and exhibited progressive sclerosis aging. Descriptive, radiogrammetric biochemical analyses performed. Type I showed a pronounced skull an enlarged thickness cranial wall. The in II was most striking at base. In there typical “Rugger-Jersey spine,” endobones (“bone within bone”) seen pelvis. investigations long bones did not show any difference between Compared to normal controls, total subperiosteal width (W), but significant cortical (C) (P < 0.01), thus reduced medullary cavity (M), suggesting bone formation disturbed resorption. Serum phosphate lower compared serum acid phosphatase markedly increased differences types mineral metabolism structural functions osteoclasts. The may represent different entities same mode inheritance, both cases affected resorption.