Goldenhar syndrome. Oculoauriculovertebral dysplasia. Hemifacial microsomia.
Incidence
Multifactorial determination with most cases being sporadic; a 2 percent recurrence risk was reported for parents of affected children. The incidence of Goldenhar syndrome vary between 1 in 3500 and 1 in 26,000 births.
Clinical Characteristics
Pattern of manifestations including mandibular hypoplasia and ear anomalies, often unilateral, with or without ocular cysts. Extreme variability of the craniofacial, ocular, otic, skeletal, cardiac, and renal anomalies led to several names, including \"hemifacial microsomia,\" \"oculoauriculovertebral dysplasia,\" \"facioauriculovertebral spectrum,\" \"first and second branchial arch syndrome,\" and \"Goldenhar complex\". From a practical standpoint, it is useful to think of Goldenhar syndrome as a variable spectrum of major anomalies similar to those occurring in associations.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
It is a clinical diagnosis. The diagnosis of Goldenhar syndrome should be considered in the presence of unilateral mandibular hypoplasia and ear anomalies, with or without ocular cysts. The initial diagnostic evaluation for children with Goldenhar syndrome depends on the severity and extent of malformation. For children with hemifacial microsomia (unilateral jaw and ear involvement), minimal diagnostic evaluation is needed. Chromosomal studies should be considered in children with severe and extensive anomalies, but a normal result is expected for Goldenhar syndrome.