TURKISH JOURNAL OF PEDIATRICS, cilt.45, ss.269-272, 2003 (SCI İndekslerine Giren Dergi)
Primary hyperparathyroidism is a life-threatening rare disorder. It is seen as a result of neonatal primary hyperparathyroidism, familial hypocalciuric hypercalcemia, increased vitamin D levels and inactivation of calcium sensing receptor mutations. The clinical findings are hypotonia, bone demineralization, hypercalcemia and parathyroid hyperplasia.