Goldenhar Syndrome

a.k.a oculo-auriculo-vetebral spectrum

• 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

• Solid limbal (epibulbar) dermoids
• Micropthalmia
• Duane Syndrome
• Lid colobomas or clefts

• Facial nerve palsy ipsilateral to microtia
• Cardiac defects
• Kidney anomalies
• One case of neuroblastoma

• Disruption of neural crest cell migration
• Mostly sporadic, most do not have known genetic defects
• rarely 7q21.11 deletion
• occasional single gene-defects

1. Tingaud-Sequeira et al., "Oculo-Auriculo-Vertebral Spectrum: New Genes and Literature Review on a Complex Disease" (Journal of Medical Genetics. 2022;59(5):417-427
2. Puvabanditsin S. et al. "7q21.11 Microdeletion in a Neonate With Goldenhar Syndrome: Case Report and a Literature Review" Cleft Palate Cranifac J. 2016;53(2):249-52
3. Carvalho GJ et al. "Auditory and Facial Nerve Dysfunction in Patients With Hemifacial Microsomia."Archives of Otolaryngology--Head & Neck Surgery. 1999;125(2):209-12
4. Michel-Adde C. et al. "Goldenhar syndrome and neuroblastoma: a chance association?" Acta Paediatr 2003;92(10):1223-5