- Discussion:
- rare form of
rickets which is often hereditary (autosomal recessive);
- characterized by reduction in
alkaline phosphatase;
- premature loss of teeth is common in children and adults;
-
skeletal changes:
- may present in infants, children, or may be delayed until adulthood;
- radiographs show an excessive amount of unmemeralized osteoid tissue (similar to rickets);
-
infants:
-
hypercalcemia may occur;
- this often needs to be treated w/ calcium chealing agents or renal dialysis;
- functional craniosynostosis may raise intracranial pressure;
- early mortality may be as high as 50%;
-
children:
- short sature and frontal bossing is common;
- calcium and phosphate levels are usually normal;
- on radiographs, look for radiolucent tongues extending from the growth
plates into the metaphysis;
-
adults:
- femoral pseudofractures and chondrocalcinosis is common;
- calcium and phosphate levels are usually normal;
