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- W2912806696 abstract "The primary characteristic of Goldenhar is hemifacial macrosomia/facial asymmetry. The syndrome is likely sporadic, although more recently genetic loci and teratogenic exposures have been reported as likely etiologies. It originates in a defect in the development of the first and second branchial arches. Other common characteristics include microtia, asymmetric mandible hypoplasia, epibulbar dermoids, microophthalmia, periauricular/preauricular tags, and cervical vertebrae anomalies (hemivertebrae). These associated anomalies are most often unilateral but can be bilateral with a more severely affected side. Genetic testing is not currently available for this condition and it remains a clinical diagnosis. Recurrence risk is dependent on etiology. This could range from not increased (general population risk) to up to 50% (autosomal dominant cases)." @default.
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- W2912806696 date "2018-01-01" @default.
- W2912806696 modified "2023-10-18" @default.
- W2912806696 title "Goldenhar Syndrome" @default.
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