What is a Goldenhar syndrome? How do you approach to manage such case?

• Also known as (Oculo-auriculo-vertebral syndrome/dysplasia/spectrum)
• It is a wide spectrum of congenital anomalies that involves structure arising from first and second Branchial arches.
• This syndrome is characterized by incomplete development of ear nose soft palate, lip and mandible.
• This syndrome commonly involves one side of the body.
• It is a variant of Hemifacial Microsomia.
• This is the second most common facial birth defect ranking next only to cleft lip and palate.
• M>F
• First describe by Goldenhar as a trial of:
  • Epibulbar Choristomas
  • Prearicular skin appendage
  • Mandibulofacial dysostosis

To this trial Gorlin added vertebral anomalies and transverse facial clefts.

• Development of Oulo-auriculo-vertebral complex takes place during the 4 week of gestation

Pathogenesis

1. Interference to blood supply to this reason (primordial stapedial artery)
2. Local Haemorrhage in the area
3. Impaired interaction b/w neural crest c the mesoderm of the 1st and 2nd arches
4. Mutations involving MSX genes.

Clinical features

1. Facial asymmetry: 70%, clearly manifest c/in 1st 4 years of life.
2. Hypoplasia of face:
   • predominantly horizontal /vertical/mixed.
   • Clearly seen along the oblique line extending b/w the malformed pinna and angle of mouth.
3. Right side commonly affected.
4. Upper 3rd of face, zygoma and lateral portion of the maxilla are affected ,Lower portion: mandible affected more (Ramus hypoplastic)
5. Orbits: Usually symmetrical, interorbital distance
6. Temporomandibular joint: displaced antero-inferiorly
7. Muscle of mastication: severely hypoplastic
8. Skin tags b/w the malformed ear and the corner of mouth.
9. Miscrostomia/cleft lip/cleft palate
10. velopharyngeal insufficiency
11. Dental maturation asymmetric defective 1º enamel.
12. Deformity of ear
13. Deformities of ear
    • Epibulbar choriostomas
    • Colobamas of upper eye lid:70% medial third of upper eyelid
    • Impaired ocular mobility due to hypoplaisa of occulomotor nerves
14. Deformity involving skull: Plagiocephaly(Frontal bone 20%)
15. Occasionally cervical and rib anomalies, cardiac defects and renal abnormalities

Diagnosis of Goldenhar syndrome

• No genetic or chromosomal test to identify
• Diagnosis by HY and clinical examination
• Other tests: Hearing assessment
• X-ray spine
• USG: Renal anomalies
• Echocadiography: Heart

Treatment:

• Varies greatly depending on the need of individuals
• Mild case: no treatment.
• Hearing loss: Hearing aids(BAHA)
• Speech therapist
• Ophthalmological problem: corrective surgery and glasses
• Surgical intervention:
  • Correction of cardiac and spinal defect
  • Cosmetic surgery for facial abnormalities correction of cleft lip and palate.

0p

Tags: Goldenhar syndrome, MBBS Past Questions, MBBS Question Bank, MBBS Questions, MD Question Bank, MD Questions, orthology