Barakat (HDR) syndrome is characterized by the triad of Hypoparathyroidism, sensorineural Deafness and Renal disease. The syndrome was first described by Barakat et al in 1977 (Barakat AY, D'Albora JB, Martin MM, Jose PA. Familial nephrosis, nerve deafness, and hypoparathyroidism. Journal of Pediatrics. 1977; 9l: 61-4). In 2018, we published a paper entitled "Barakat AJ, Raygada M, Rennert OM. Barakat syndrome revisited. Am J Med Genet.2018; 1- 8. DOI: 10.1002/ajmg.a.38693". A review of the literature then revealed 180 reported cases. We are learning more about the phenotype and genotype of this syndrome, as more cases are appearing in the literature. I am interested to know if anyone has unreported case/s of the syndrome? Thank you
Amin J. Barakat, MD, FAAP