| Autor: |
Angela S. Zhu, Danielle Reny Larrow, Michael S. Cohen |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
Otolaryngology Case Reports, Vol 30, Iss , Pp 100573- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2468-5488 |
| DOI: |
10.1016/j.xocr.2023.100573 |
| Popis: |
Barakat syndrome is a rare autosomal dominant disease caused by haplo-insufficiency of transcription factor GATA3 on chromosome 10p14. It is characterized by a triad of hypoparathyroidism, sensorineural hearing loss, and renal disease with high phenotypic heterogeneity. Here we report a case of Barakat syndrome in a newborn presenting with isolated sensorineural hearing loss. A comprehensive set of diagnostic tests, including blood work and imaging were unremarkable outside of the failed newborn hearing screening. Recognizing Barakat syndrome is clinically challenging given the highly variable presentation. Otolaryngologists should consider Barakat syndrome when evaluating patients presenting with isolated congenital sensorineural hearing loss. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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