Complexities of Barakat syndrome: Insights from two challenging cases
ABSTRACT Barakat syndrome, characterized by the triad of hypoparathyroidism, deafness, and renal disease, also known as hypoparathyroidism, sensorineural deafness, and renal disease (HDR) syndrome, is an autosomal dominant, rare genetic disease caused by haploinsufficiency of the GATA -binding protein 3 ( GATA3 ) gene. We describe two cases with distinct clinical presentations and shared underlying genetic abnormality. Clinicians should be aware of this rare inherited condition when a patient presents with a constellation of signs and symptoms because it allows early intervention to minimize future clinical problems.
Authors
- S. Bhattacharyya (ORCID: https://orcid.org/0000-0002-3214-6181)
- Amit K. Verma (ORCID: https://orcid.org/0000-0001-7592-7693)
Institutions
- Manipal Hospital (IN)
Publication Details
- Journal
- IJEM Case Reports
- Published
- 2025-04-01
- DOI
- https://doi.org/10.4103/ijemcr.ijemcr_80_24
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00