Goldenhar Syndrome

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Described in 1952 by Maurice Goldenhar, Goldenhar Syndrome is also known as 'OculoAuriculoVertebral Syndrome (OAV)' or 'Hemicraniofacial Microsomia'.

  • Goldenhar Syndrome is one of the Craniofacial Syndromes.
  • Characterised by varying degrees of congenital malformation of the face, usually unilateral.


Contents

Incidence

  • Incidence = estimated at 1 in 25 000.
  • 1% recurrence estimated in further offspring
  • 3% incidence estimated in the children of those who have Goldenhar Syndrome


Aetiology

Aetiology is unknown.

  • Most cases are sporadic
  • Rare familial autosomal dominant variants have been described.


Clinical features

Goldenhar Syndrome consists of varying degrees of malformation or hypoplasia of the ear, mouth, eye, maxilla and mandible. Subcutaneous tissue or hair may be absent

  • Orbit: may be small, displaced, deformed.
    • Eye: may be rudimentary or absent. Ocular dermoids may be present.
  • Mandible: may be hypoplastic or absent, again usually a unilateral defect.
  • Ear: usually low-set; may be hypoplastic or a remnant with no external auditory meatus. Associated with variable degrees of hearing impairment.
  • Cranial Nerves: All nerves may be affected, though CN VII (facial) is most commonly deficient.
  • Renal: hypoplastic or absent kidneys are associated.
  • Vertebral: anomalies include fused vertebrae, hemivertebrae and scoliosis.
  • Cardiac anomalies
  • Pulmonary hypoplasia

Deformities can worsen with time and growth of surrounding normal tissues.


Morbidity and Mortality

Morbidity is secondary to the structural and functional defects and the aesthetic and emotional consequences.


Investigations

  • CT / MRI (+/- 3D reconstruction) and dental investigations
  • Ophthalmology
  • Audiology
  • Renal assessment


Differential Diagnoses

Other Craniofacial Syndromes


Management

Management is centred on surgical craniofacial reconstruction.

  • Many operations are required to address the structural, functional and aesthetic problems of Goldenhar Syndrome, with variable results.
  • Good dental care is essential.
  • Psychological and emotional support will be required.


Prognosis

Prognosis is dependent on the constellation and severity of malformations.


References

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