Chronic Familial Hyperphosphatasemia

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Abstract
Two siblings displaying macrocrania and multiple skeletal deformities, as well as cardio-megaly, had high levels of serum alkaline phosphatase and markedly increased urinary hy-droxyproline excretion. The radiological findings of chronic familial hyperphosphatasemia, which are typical of a rare bone-remodeling disease, are presented. Scintigraphy disclosed intense uptake of the radionuclide by the skeletons of both patients. This finding, considered to be related to abnormal collagen metabolism, can be used in the diagnosis and assessment of skeletal involvement in such patients.