Hipoparatiroidismo primario familiar, sordera neurosensorial y displasia renal

Brain calcifications mainly within the basal ganglia are associated with several clinical entities, including hypoparathyroidism. We report a case of autosomal dominant familial isolated hypoparathyroidism with brain calcifications, sensorineural deafness, and renal dysplasia. Since 1997, the combination of isolated hypoparathyroidism, sensorineural deafness, and renal malformations has been known by the acronym HDR syndrome. Some cases have been associated with genetic anomalies on chromosome 10.