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| goldenhar_syndrome [2015/07/04 02:34] – created admin | goldenhar_syndrome [2025/07/14 01:30] (current) – [Eye Findings] Scott Larson | ||
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| + | ====== Goldenhar Syndrome ====== | ||
| + | a.k.a oculo-auriculo-vetebral spectrum | ||
| + | ====Main Features==== | ||
| + | * Anomalies of structures derived from the first and second bronchial arches | ||
| + | * Hemifacial microsomia (facial asymmetry due to underdevelopment of the mandible and associated tissues) | ||
| + | * Auricular anomalies | ||
| + | * microtia | ||
| + | * preauricular skin tags | ||
| + | * atresia of external auditory canal | ||
| + | * Conductive hearing loss | ||
| + | * Vertebral defects | ||
| + | * hemivertebrae | ||
| + | * fused vertebrae | ||
| + | |||
| + | ====Eye Findings==== | ||
| + | * Solid limbal (epibulbar) dermoids | ||
| + | * Micropthalmia | ||
| + | * [[duane_syndrome|Duane Syndrome]] | ||
| + | * Lid colobomas or clefts | ||
| + | ====Other Findings==== | ||
| + | * Facial nerve palsy ipsilateral to microtia | ||
| + | * Cardiac defects | ||
| + | * Kidney anomalies | ||
| + | * One case of neuroblastoma | ||
| + | ====Etiology==== | ||
| + | * Disruption of neural crest cell migration | ||
| + | * Mostly sporadic, most do not have known genetic defects | ||
| + | * rarely 7q21.11 deletion | ||
| + | * occasional single gene-defects | ||
| + | ====Resources==== | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | - [[https:// | ||
| + | |||
| + | {{tag> | ||