Abstract
The pathogenesis of this syndrome has not been elucidated. The present case-a 12 years old boy-demonstrated dwarfism, stenosis of medullary spaces of bones, intracranial calcifications and permanent hypocalcemic hyperphosphatemic tetany. Thyroxine and growth hormone levels were normal. Plasma parathormone was elevated. The response to parathormone was normal: a significant rise in serum Ca, a fall in serum phosphate, an increase is renal phosphate clearance, and an increase in urinary proline and OH-proline. Microradiographs of cross sections from the fibula shaft showed normal bone structure and density. However there was remarkably little remodeling activity: only one or two forming osteones in the entire section and only one resorption cavity. This is the first child with this syndrome in whom the bone is examined.
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