International Journal For Multidisciplinary Research

E-ISSN: 2582-2160     Impact Factor: 9.24

A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal

Call for Paper Volume 7, Issue 4 (July-August 2025) Submit your research before last 3 days of August to publish your research paper in the issue of July-August.

Barakat syndrome – Case report of a rare multisystem genetic disorder

Author(s) Dr. Venugopal Reddy Iragamreddy, Dr. Sushma Abbani Manjunath, Dr. Abhishek S Aradhya, Dr. Dinesh Kumar Vuppu
Country India
Abstract Barakat syndrome, also known as Hypoparathyroidism, Deafness, Renal disease (HDR) syndrome, is a rare autosomal dominant disorder. We report a case of a newborn female who presented with neonatal hypocalcemia, congenital hypothyroidism, and distinctive craniofacial features. Genetic testing confirmed a GATA3 mutation consistent with Barakat syndrome. Despite the absence of renal involvement at birth, the diagnosis was established based on clinical and genetic findings. This case highlights the variable presentation of Barakat syndrome and underscores the importance of early recognition, multidisciplinary evaluation, and genetic confirmation to guide long-term management and family counseling.
Keywords hypoparathyroidism, GATA gene, deafness, renal abnormalities
Field Medical / Pharmacy
Published In Volume 7, Issue 4, July-August 2025
Published On 2025-07-24
DOI https://doi.org/10.36948/ijfmr.2025.v07i04.50788
Short DOI https://doi.org/g9vphd

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