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Otofaciocervical Syndrome and Its Overlap with Branchio‐Otorenal Spectrum: An Integrated Literature Analysis of EYA1‐Related Disorders, Including a Novel Case with an 8q13.2q13.3 Deletion

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By Ludovico Graziani, Miriam Lucia Carriero, Salvatore Melchionda, Bartolomeo Augello
| Preprints.org
Submitted: 01 September 2025 Posted: 03 September 2025 You are already at the latest version Otofaciocervical syndrome (OTFCS) is a rare disorder characterized by facial, auditory, and shoulder girdle anomalies. Its significant phenotypic overlap with branchio-oto-renal spectrum disorders (BORSD)—both linked to EYA1 gene defects—has raised questions about whether they are distinct entities or part of a single clinical spectrum.
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