The Turkish Journal of Endocrinology and Metabolism, vol.21, no.3, pp.89-91, 2017 (Peer-Reviewed Journal)
Williams-Beuren syndrome (WBS), a rare familial multisystem disorder, is characterized by congenital heart defects, skeletal and renal anomalies, cognitive disorders, social personality disorder, dysmorphic facies, and hypercalcemia. Herein, we report a case of WBS with parathyroid adenoma (PA). In a 32-year-old women who was admitted to the endocrinology clinic for hypercalcemia. We diagnosed PA with neck ultrasonography and parathyroid scintigraphy. Very few cases of WBS have been documented worldwide. To the best of our knowledge, this is the first report on WBS associated with PA.