
International Journal For Multidisciplinary Research
E-ISSN: 2582-2160
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Impact Factor: 9.24
A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal
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Volume 7 Issue 4
July-August 2025
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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 |
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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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E-ISSN 2582-2160

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IJFMR DOI prefix is
10.36948/ijfmr
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