Volume 11 (2024) | Issue 5
Volume 11 (2024) | Issue 5
Volume 11 (2024) | Issue 5
Volume 11 (2024) | Issue 5
Volume 11 (2024) | Issue 4
Introduction: Barakat syndrome is an autosomal dominant rare genetic disease caused by haploinsufficiency of the GATA binding protein 3 (GATA3) gene[1]. It is also known as HDR syndrome, and is characterized by varying degrees of hypoparathyroidism, sensorineural deafness and renal disease. Case report: We report a rare case of Barakat Syndrome (HDR Syndrome) a developmental disorder associated with mutations in the GATA3 gene. Conclusion: It emphasises the need for HDR syndrome to be considered in the differential diagnosis of persistent hypocalcaemia with sensorineural deafness and/or renal involvement, and for appropriate genetic evaluation to be done to confirm the diagnosis.