Goldenhar syndrome

External and

middle ear diseases: radiological diagnosis based on clinical signs and symptoms. Severe external and middle ear deformity accompanying Goldenhar syndrome (oculoauricular dysplasia). Coronal CT scan shows, that tympanic bone, forming the floor of EAC is absent. It also results in temporomandibular joint incomplete formation

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Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAVS), Goldenhar-Gorlin syndrome or facio-auriculo-vertebral dysplasia, is a complex congenital anomaly characterized by abnormalities of the ears, eyes and vertebrae.

Epidemiology

The estimated incidence is at 1 in 3000-5000 newborns. There may be a minor male predominance (M:F ~3:2).

Clinical presentation

The condition is characterized by a number of features which include:

ear anomalies: commonest feature
- pre-auricular appendages/tags
- otic hypoplasia
hemifacial microsomia
ocular anomalies
- unilateral microphthalmia/unilateral anophthalmia
- epibulbar dermoids
transverse facial clefts
asymmetry of skull and spinal anomalies (vertebral segmentation errors)

Pathology

Genetics

The occurrence is thought to be mostly sporadic. Occasional autosomal dominant and autosomal recessive forms have been described.

Associations

In addition to the main features described above, there may be associated features such as

abnormal amniotic fluid volumes
- oligohydramnios
- polyhydramnios: more common, due to swallowing issues
congenital genito-urinary anomalies
congenital cardiac anomalies

Radiographic features

Antenatal ultrasound

Individual features are non-specific. The syndrome is sometimes considered when there is facial asymmetry or a maxillary cleft present in association with unilateral microphthalmia.

Treatment and prognosis

The overall prognosis is generally favorable except for cosmetic facial problems and handicap from eye and ear anomalies. Intelligence is usually not affected. There is a ~3% for a future pregnancy.