What are the investigation and management guidelines for a patient with Goldenhar syndrome?

Goldenhar Syndrome: Investigation and Management Guidelines

Initial Diagnostic Evaluation

All patients with suspected Goldenhar syndrome require comprehensive craniofacial assessment coordinated with clinical genetics, otolaryngology, ophthalmology, and cardiology to identify life-threatening anomalies and guide multidisciplinary management. 1

Essential Clinical Examination

• Head and neck examination must document auricular defects (microtia, preauricular appendages, atresia of external auditory canal), mandibular hypoplasia, maxillary asymmetry, and facial asymmetry 1, 2
• Ophthalmologic evaluation to identify epibulbar dermoids, microphthalmia, anophthalmia, coloboma, strabismus, and eye asymmetry 1, 2
• Oral cavity assessment for cleft lip/palate, macrostomia, bifid tongue, and dental anomalies (agenesis, supernumerary teeth, enamel malformations) 2
• Neurological examination with attention to developmental milestones and speech development 3

Mandatory Imaging Studies

Cervical spine imaging is critical and potentially life-saving in Goldenhar syndrome due to high incidence of cervical vertebral malformations and risk of spinal cord injury. 4, 5

• Three-dimensional CT of the craniocervical junction and cervical spine should be performed early to identify malsegmentation, basilar invagination, foramen magnum stenosis, unsegmented bars, and failure of vertebral formation 4, 5
• MRI of the head and cervical spine is recommended to assess for cervicomedullary compression, semicircular canal abnormalities, and neurological involvement 4
• CT temporal bones to evaluate cochlear abnormalities and assess candidacy for surgical intervention or hearing aids 1
• Renal ultrasound to screen for genitourinary anomalies 6
• Spinal imaging (full spine radiographs or CT) to identify vertebral defects, scoliosis, kyphoscoliosis, and spinal clefts 2, 5

Cardiovascular Assessment

• Echocardiogram and EKG must be performed to identify congenital heart defects, which can be life-threatening in the first year of life 6, 2

Audiologic Evaluation

• Comprehensive audiologic testing including audiometry and tympanometry to document type and severity of hearing loss, as conductive hearing loss is common with craniofacial anomalies 1
• Evaluation should occur at diagnosis and annually to monitor progression 1

Genetic Testing

• Genetic counseling and testing should be offered, though Goldenhar syndrome is typically diagnosed clinically and specific genetic mutations are not consistently identified 1, 3
• Family history review for genetic disorders and syndromes associated with hearing loss and craniofacial anomalies 1

Critical Management Priorities

Airway and Anesthesia Precautions

Any patient with Goldenhar syndrome requiring general anesthesia must have pre-operative evaluation for cervical spine compression and/or instability, with controlled neutral neck positioning during intubation to prevent catastrophic spinal cord injury. 4

• Pre-operative 3D CT and MRI to identify basilar invagination, foramen magnum stenosis, or cervicomedullary compression 4
• Minimize neck movement during intubation, operation, and recovery 4
• Consider awake fiberoptic intubation in high-risk cases 4

Neurosurgical Intervention

• Suboccipital craniectomy and C1 laminectomy are indicated for cervicomedullary compression identified on MRI 4
• This should be performed before elective craniofacial reconstructive procedures 4

Hearing Rehabilitation

• Early amplification or cochlear implantation planning for patients with significant hearing loss to address dual sensory impairment risk 1, 6
• Bone-anchored hearing aids may be considered depending on anatomy 1

Craniofacial Reconstruction

• Mandibular distraction surgery and maxillofacial correction procedures are typically performed after addressing life-threatening anomalies 2, 4
• Pre-operative and post-operative orthodontic treatment is essential for optimal outcomes 2
• Timing varies based on severity but often staged throughout childhood and adolescence 2

Speech and Developmental Support

• Speech therapy for articulation difficulties related to cleft palate, macrostomia, or hearing loss 3
• Early intervention services for developmental delays, which are common 3

Ophthalmologic Management

• Surgical removal of epibulbar dermoids if vision-threatening 2
• Correction of strabismus as needed 2
• Regular monitoring for progressive eye abnormalities 2

Ongoing Surveillance

• Annual multidisciplinary follow-up with otolaryngology, cardiology, ophthalmology, genetics, developmental pediatrics, and orthopedic surgery 6
• Serial spine imaging to monitor for progressive scoliosis or kyphoscoliosis, particularly during growth spurts 5
• Developmental and neuropsychiatric screening as delays and behavioral issues may emerge over time 3

Critical Pitfall to Avoid

The side of hemifacial microsomia strongly correlates with the side of craniocervical and cervical vertebral abnormalities—conventional radiographs are insufficient to assess the craniocervical area in syndromic patients and may miss life-threatening compression. 5 Always obtain advanced imaging (CT and MRI) rather than relying on plain films alone.