Updated: 1/29/2020

Goldenhar Syndrome

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Introduction
  • Overview
    • Goldenhar syndrome is a congenital syndrome affecting the eyes, ears, and spine
      • also known as oculo-auriculo-vertebral spectrum (OAVS)
      • features include
        • crainofacial microsomia 
        • ocular desmoid cysts 
        • spine anomalies
  • Epidemiology
    • incidence
      • rare
      • seen in 1:3500-25000 births
    • demographics
      • affects males more than females (3:2)
  • 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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