Updated: 6/16/2021

Goldenhar Syndrome

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  • summary
    • Goldenhar Syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disorder caused by an error in the embryological development of the ectoderm, that presents with thoracic scoliosis, crainofacial microsomia, and ocular desmoid cysts. 
    • Diagnosis is made based on family history associated with typical clinical features.
    • Treatment involves a multidisciplinary approach to address spine manifestations, ocular abnormalities, and craniofascial abnormalities.
  • Epidemiology
    • Incidence
      • relatively rare
        • seen in 1:3500-25000 births
    • Demographics
      • affects males more than females (3:2)
  • Etiology
    • Pathophysiology
      • results from an error in the embryological development of the ectoderm
        • leads to unilateral arrest or dysplastic development of
          • first and second branchial arches
          • first pharyngeal pouch
          • branchial cleft
    • Genetics
      • inheritance
        • multifactorial but usually sporadic
        • may have a genetic component
          • rarely inherited in an autosomal dominant pattern (1-2%)
    • Associated conditions
      • spine
        • thoracic scoliosis
        • defects of vertebral segmentation (cervical most common)
      • face
        • partially formed or absent ear (microtia)
        • benign growths around the eye (ocular desmoid cysts)
        • chin or mouth deviated to the affected side
        • cleft lip/palate
      • systemic
        • hearing defects
        • kidney defects
        • normal intelligence
  • Presentation
    • History
      • may be detected at birth or pre-operative ultrasound screening
    • Symptoms
      • facial asymmetry
      • hearing problems
      • dental underdevelopment
      • spinal deformity
    • Physical exam
      • inspection
        • hemifacial microsomia tends to affect the right side of face
        • spine aligment, rotation
      • motion
        • fixed spine curvatures
      • neurovascular
        • may be affected with spine anomalies
  • Imaging
    • Radiographs
      • indication
        • screening and assessment of spinal anomlies
      • views
        • full length spine radiographs (AP and lateral)
      • findings
        • cerviothoracic scoliosis
        • defects of vertebral segmentation
    • CT scan
      • indications
        • better visualization and planning of spinal anomalies
      • views
        • axial, sagittal and coronal cuts
        • 3D reconstruction
  • Treatment
    • Nonoperative
      • supportive therapy
        • indications
          • first line of treatment
        • modalities
          • monitor lung function
          • monitor progression of scoliotic curve
          • referral to ophthamology, ENT, plastic surgery, cardiology, and nephrology
    • Operative
      • thoracostomy and VEPTRL (vertical expandable prosthetic titanium rib) implantation
        • indications
          • progressive infantile scoliosis
          • thoracic insufficiency syndrome
  • Complications
    • Curve progression
      • can lead to thoracic insufficiency syndrome
    • Spinal cord tethering
    • Systemic complications
      • cardiac
      • renal

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