Summary
Goldenhar's syndrome, also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare condition characterized by the triad (usually unilateral) of craniofacial microsomia, ocular dermoid cysts and spinal anomalies. Goldenhar described this condition in 1952 as a combination of dermal epibulbar tumors, peri-auricular appendices and malformation of the ears. The presence of auricular anomalies are considered necessary for the diagnosis. The known rate of incidence OAV is approximately 1 in 5,000-25,000 live births, male prevalence is established. Most of the cases of OAV are sporadic; autosomal dominant transmission is reported for 1-2% of the cases; a few families consistent with autosomal recessive inheritance have been reported. Etiology of the syndrome remains unclear. Currently, a deficiency in mesodermal formation or defective interaction between neural crest and mesoderm is suggested as a possible etiology. Different factors were supposed to be related to the development of the disease: ingestion of some drugs (cocaine, thalidomide, retinoic acid, tamoxifen), environmental factors (insecticides, herbicides), maternal diabetes. Ocular anomalies occur in about 50% of the cases of OAV, epibulbar dermoid and lipodermoid being the most common. Lipodermoids are usually localized in the inferotemporal epibulbar area. They can be missed on computed tomography (CT) or magnetic resonance imaging (MRI) since they are similar to the orbital fat. Auricular defects are reported in 65% of the cases and include preauricular tags, microtia, anotia, conductive hearing loss. Vertebral anomalies consist in absence of vertebrae, hemivertebrae, fused ribs, kyphosis, scoliosis. Additional features: Cardiovascular, genitourinary and pulmonary systems can also be affected. Cardiopulmonary distress in the first few months of the life is a relatively common life-threatening complication. The syndrome may also present hypoplasia of the zygomatic, mandibular and maxillary bones, facial muscle hypoplasia, abnormalities of the tongue, lip and clef palate, disturbances of the central nervous system. Surgical treatment should be offered to correct the jaw on the affected side, to rebuild the outer ear, to build up the cheeks. Orthodontic supervision is essential.
Expert reviewer(s)
Last update: February 2005
