Clinical photographs from A to D demonstrating - facial asymmetry
A 1-year-old male child presented with delayed development since the age of 7-8 months. Past history of eye surgery for right eyelid coloboma repair. Key examination findings (Figure 1) include corneal opacity in the right eye with multiple bilateral pre auricular tags.
External/middle/inner ear findings: (Figures 2, 3)
Cranial-nerve/Neurological abnormalities: (Figure 4)
Oculo-Facial features: (Figure 6)
Vertebral features: (Figure 7)
Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), is a complex congenital defect resulting from anomalous development of the first and second branchial arches. It is characterised by a multitude of craniofacial anomalies – predominantly involving the eyes, ears, spine.
The aetiology is not fully established and may be due to faulty development of the blood supply to first two branchial arches during the critical periods of facial development.
It shows considerable phenotypic heterogeneity.
The classic clinical triad includes facial asymmetry, ear malformations (microtia/anotia, preauricular tags/ fistula) and ocular anomalies (bulbar dermoid cyst, microphthalmia, coloboma of the iris/eyelid) . Various spinal deformities, such as hemivertebrae and scoliosis have been described.
Imaging aids in mapping the craniofacial and vertebral defects, as well as the frequently associated temporal bone and intracranial neuro-vascular anomalies.
Craniofacial defects, bony abnormalities as well as spine deformities are easily detectable by Computed Tomography (CT).
In cases with developmental delays and neurocognitive defects, Magnetic Resonance Imaging (MRI) of the brain and High-Resolution CT of the temporal bone are complimentary to each other.
Ocular and Facial features :
Temporal bone features :
Cranial nerve abnormalities :
Reconstructive surgery for structural deformities of the eyes and ear (imperative to address eyelid coloboma order to prevent corneal scarring). High-resolution CT or MRI of the temporal bones should be performed for planning therapy for hearing loss.
Take-Home Message / Teaching Points
An integrated Multimodality imaging approach is s imperative in patients with Goldenhar’s, with special reference to mapping correctable defects and feasibility of reconstructive surgery. 
 Bogusiak K, Puch A, Arkuszewski P. (2017) Goldenhar syndrome: current perspectives. World J Pediatr. Oct;13(5):405-415. PMID: 28623555.
 Shrestha, U. D., & Adhikari, S. (2015). Craniofacial Microsomia: Goldenhar Syndrome in Association with Bilateral Congenital Cataract. Case reports in ophthalmological medicine, 435967.
 Hennersdorf F, Friese N, Löwenheim H, Tropitzsch A, Ernemann U, Bisdas S. (2014) Temporal bone changes in patients with Goldenhar syndrome with special emphasis on inner ear abnormalities. Otol Neurotol. Jun;35(5):826-30. PMID: 24686288.
 Manara, R.; Brotto, D.; Ghiselli, S.; Mardari, R.; Toldo, I.; Schifano, G.; Cantone, E.; Bovo, R.; Martini, A. (2015). Cranial Nerve Abnormalities in Oculo-Auriculo-Vertebral Spectrum. American Journal of Neuroradiology, 36(7), 1375–1380.
 Ventura E, Ormitti F, Crisi G, Sesenna E. (2014) Goldenhar syndrome associated with contralateral agenesis of the internal carotid artery. The Neuroradiology Journal. Apr;27(2):150-153.
 Senggen, E., Laswed, T., Meuwly, JY. et al. (2011) First and second branchial arch syndromes: multimodality approach. Pediatr Radiol 41: 549–561
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.