Article

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

2025-09-03

Abstract excerpt

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. We report a novel OTFCS patient with a de novo microdeletion spanning EYA1, an...

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Literature Corpus work: 6db2cd48-86fa-5eef-8040-f79d48abfae6
DOI: 10.20944/preprints202509.0296.v1

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