ABSTRACT

The combination of hypoparathyroidism, sensorineural deafness, and renal anomalies was described for the first time by Bilous et al. in 1992 (1) in a family with autosomal dominant hypoparathyroidism, sensorineural deafness, and renal dysplasia, and termed the HDR syndrome. This autosomal dominant malformation syndrome represents a new clinical entity and since the original publication, other patients with HDR have been published (2-4).