Radiological quiz. Familial hyperphosphatasemia.
Hyperphosphatasemia is a genetic disorder of intramembranous bone formation which is radiographically similar to Paget's disease. The authors report a case of hyperphosphatasemia complicated by salt-losing congenital adrenal hyperplasia in a Puerto Rican child. Recognition of this condition is important because of the promising results with calcitonin therapy.
D000308:Adrenocortical Hyperfunction / Q000150:complications; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D010710:Phosphates / Q000097:blood*; D011859:Radiography
D010710:Phosphates