Differences
This shows you the differences between two versions of the page.
| Both sides previous revision Previous revision Next revision | Previous revision | ||
| goldenhar_syndrome [2025/04/18 20:40] – external edit 127.0.0.1 | goldenhar_syndrome [2025/07/14 01:30] (current) – [Eye Findings] Scott Larson | ||
|---|---|---|---|
| Line 1: | Line 1: | ||
| ====== Goldenhar Syndrome ====== | ====== Goldenhar Syndrome ====== | ||
| + | a.k.a oculo-auriculo-vetebral spectrum | ||
| - | | + | ====Main Features==== |
| - | * lid colobomas | + | |
| - | * pre-auricular | + | * Hemifacial microsomia (facial asymmetry due to underdevelopment of the mandible and associated tissues) |
| - | * vertebral abnromalities | + | * Auricular anomalies |
| - | * Associated with [[duane_syndrome|Duane Syndrome]] | + | * microtia |
| + | * preauricular | ||
| + | * 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> | {{tag> | ||