Goldenhar syndrome

Introduction:

Also known asOculo-Auriculo-Vertebral syndrome. Thissyndrome is characterized by incomplete development of ear, nose, soft palate,lip, and mandible. This syndromecommonly involves one side of the body. This condition also goes under the name Hemifacial Microsomia. This is the second most common facial birthdefect ranking next only to cleft lip and palate. Curiously males are commonly affected thanfemales. This condition was first described byGoldenhar. He described a triad ofepibulbar choristomas, preauricular skin appendages, and mandibulofacialdysostosis. To this triad Gorlin addedvertebral anomalies which were found commonly in these patients andrechristened this syndrome as Oculo-Auriculo-Vertebral dysplasia. He also included Hemifacial microsomia,transverse facial clefts in this syndrome. Development of Oculo-auricular-vertebral complex takes place during the4th week of gestation.

Pathogenesis of Goldenhar syndrome:

1. It could result from interference toblood supply to this region, probably the primordial stapedial artery could bethe culprit. 2. Any local hemorrhage in this area canlead to this syndrome 3. Impaired interaction between neuralcrest cells with the mesoderm of the 1st and 2nd arches 4. Mutations involving Msx genes.

Clinical features:

1. Facial asymmetry is commonly seen in 70% of these patients. This may not be appreciable at birth but will clearly manifest within the first 4 years of life.

2. Hypoplasia of face may be predominantly horizontal / vertical / mixed. Predominant hypoplasia could be clearly seen along the oblique lineextending between the malformed pinna and the angle of the mouth.

3. Right side of the face is commonly affected

4. In the upper third of face zygoma and lateral portion of the maxilla are affected

5. Orbits usually are symmetrical with abnormal inter orbital distance

6. Nose and the columella deviate to the hypoplastic side

7. In lower portion of the face mandible is more severely affected. Mandibular hypoplasia causes the most facial distortion in these patients. The ramus of the mandible is severely hypoplastic in comparison with the body. This adds more to the asymmetry.

8. Temporo mandibular joints get displaced antero inferiorly

9. Muscles of mastication are severely hypoplastic, in proportion to the mandibular hypoplasia.

10. Skin tags may be found between the malformed ear and the corner of the mouth

11. Mouth usually has short transverse dimension (microstomia).

12. Cleft lip and cleft palate are common in these patients

13. Tongue and palatal muscles may be paralyzed / hypoplastic

14. Palate usually deviates to the affected side

15. Velopharyngeal insufficiency is common in a large majority of these patients

16. Dental maturation is usually asymmetric in these patients with defective primary enamel

Deformities of Ear:

Can be classified for the sakeof convenience and better understanding into deformities involving the externalear, middle ear and inner ear.

Microtia:

This term is applied to a pinna whichis small / distorted. Non syndromicMicrotia occurs in 0.01% of all new born. More than 3% of patients with Goldenhar syndrome have Microtia. Microtia in Goldenhar syndrome is commonlyunilateral. Severity of malformation ofexternal canal is usually proportional to that of Microtia.

Malformations involving middle ear:

This usually parallels severity of Microtia and mandibular hypoplasia. Radiologically ossicles of middle ear are abnormal in 70% of these patients. Only about a third of patients with Goldenhar syndrome have normal hearing, the rest show sensorineural / mixed / conductive hearing losses of varying degrees.

Malformations involving inner ear:

Cochlea &vestibule may be abnormal / absent in these patients. The internal auditory canal may be shorter,narrower and inclined upwards. 7thnerve palsy is seen in 50% of these patients and correlates with the degree ofMicrotia.

Deformities involving eye:

Characteristic ocularabnormalities seen in patients with Goldenhar syndrome include:

1. Epibulbar choristomas

2. Colobomas of upper eye lid – Seen in70% of patients with Goldenhar syndrome. These colobomas usually occur at the medial third of the upper eyelid.

3. Impaired ocular mobility – Mayinclude estropia, exotropia and Duane’s retraction syndrome caused byhypoplasia of oculomotor nerve or its nuclei. Esotropia is a type of squint in which one / both eyes turn inwardsgiving a cross eyed appearance.

4. Dacryostenosis

5. Limbal dermoids

Deformities involving skull:

Plagiocephaly– This deformity which involves the frontal bones are seen in 20% of patientswith Goldenhar syndrome. Frontal bone inthis condition on the side of the Hemifacial Microsomia shows deformity.