Goldenhar Syndrome

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)

• Stenotic left external auditory canal. Dysplastic left stapes, with its footplate seen articulating antero-superiorly. Normal left malleus-incus; Normal right EAC, middle ear structures.
• Both vestibules: cystic and dysplastic with abnormal morphology. 
• Non-visualisation of cochlea bilaterally.
• Bilateral Internal auditory canals replaced by areas of sclerosis

Cranial-nerve/Neurological abnormalities: (Figure 4)

• Common trunk origin of the right trigeminal, facial and vestibulocochlear nerves on the right side. Meckel’s cave on the right located more posteriorly. Right cochlear nerve not seen.
• Absent bilateral 6^th cranial nerves, with non-visualisation of the left 7-8^th nerve complex.
• Left internal carotid artery – almost not visualised in its petrous, cavernous and supraclinoid segments. Left common carotid artery is narrow in calibre. (Figure 5)
• Left MCA seen arising from the basilar artery via Posterior Communicating Artery, at the level of the PCA origin.

Oculo-Facial features: (Figure 6)

• Left facial hemiatrophy.
• Periorbital dermoid cyst.

Vertebral features: (Figure 7)

• Fusion of C5-C6 vertebrae.
• C5 hemivertebra

Background 
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.

Etio-pathophysiology
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.

Clinical features
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) [1]. Various spinal deformities, such as hemivertebrae and scoliosis have been described. 

Imaging Perspective  
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 [2]: 

• Facial asymmetry, with hypoplasia of hemifacial skeleton – predominantly involving the mandibular arch derivatives.
• Cleft lips, cleft palate. 
• Epibulbar / Periorbital dermoid cysts.

Temporal bone features [3]: 

• Atresia of external auditory canal. 
• Middle ear anomalies, including ossicular dysplasias.
• Inner ear abnormalities: Dysplasa/ aplasia of the cochlea and/or the vestibule. 

Cranial nerve abnormalities [4]: 

• Hypo-/aplasia of V-VIIth cranial nerves, with aplasia or narrowing of the corresponding foramina. Sensorineural hearing loss may thus result from these anomalies. 
• Anomalous course of the cisternal segment and partial or complete fusion of two cranial nerves may be seen. 

Neurological abnormalities: 

• Diffuse cerebral hypoplasia
• Callosum dysgenesis, hydrocephalus. 
• Developmental delay. 
• Hypothalamic hamartoma.
• Vascular anomalies [5]: Agenesis/hypoplasia of the internal carotid artery. 

Vertebral Anomalies:

• Cervical spine hemivertebrae
• Cervical spine fusion
• Scoliosis
• Spina bifida

Outcome 
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. [6]