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At a glance

Common birth defect of vascular origin involving the first and second branchial arch derivatives, resulting mainly in hemifacial microsomia with anomalies of the ear, eye, and vertebral bodies. Other dermatological manifestations include limbal dermoids, preauricular skin tags, and strabismus. Usually associated with severe cardiovascular anomalies including ventriculoseptal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot, and coarctation of the aorta. Arnold-Chiari Syndrome and hydrocephalus are reported. Airway problems (unilateral hypoplasia of the facial bones and muscles) are very important considerations as difficult tracheal intubation must be expected. A higher incidence of obstructive sleep apnea in patients affected with facial microsomia has been reported. Epibulbar dermoids. Limited mouth opening, micrognathia, and a cleft palate is often associated with this condition.

Synonyms

Facio-Auriculo-Vertebral Sequence (or Spectrum) (FAV Sequence); Goldenhar-Gorlin Syndrome; Hemifacial Microsomia Syndrome; Oculo-Auriculo-Vertebral Dysplasia (OAV Dysplasia); Oculo-Auriculo-Vertebral (OAV) Anomaly (or Spectrum); Oculo-Auriculo-Vertebral (OAV) Syndrome.

History

Described by Maurice Goldenhar, an American physician (1924-2002) who attended medical school in Geneva and in 1940 emigrated from Belgium to the United States. He was a general practitioner. The “Maurice Goldenhar Family Medicine Update,” Stony Brook University Hospital, State University of New York, is named in his honor. Goldenhar described the condition in the early 1950s. He suggested a combination of anomalies: dermal epibulbar cysts, auricular appendices, and malformation of the ears. In 1963, Gorlin expanded the description of the disease and named it the oculo-auriculo-vertebral (OAV) dysplasia which included severe cardiac anomalies, vertebral defects, and hypoplasia of the zygomatic, mandibular, and maxillary bones.

Incidence

Frequency ranges from 1:3,000 to 26,500 live births. Male-to-female ratio is 3:2. Infants born to Gulf War veterans displayed a higher rate of Goldenhar Syndrome, probably secondary to toxic exposures.

Genetic inheritance

Most cases are sporadic; familial cases are consistent with autosomal recessive, autosomal dominant, and multifactorial patterns of transmission. Gene location has not been identified.

Pathophysiology

Vascular disruption in the blood supply to the first and second branchial arches, especially at the time of switching from stapedial to external carotid artery supply, is believed to be the cause in many cases of the Goldenhar anomaly; this disruption could be genetically linked. Another hypothesis suggests that a defect of blastogenesis results from deficiency in migration of neural crest cells, deficiency of mesodermal formation, or defective interaction between neural crest cells and mesoderm. A transgenic mouse line model with autosomal dominant hemifacial microsomia suggested the anomaly consisted of a mutational deletion (23 kb at least) on the locus Hfm (hemifacial microsomia-associated locus) on chromosome 10 (in the mouse). The disorder may be present in monozygotic twins, with only one twin being affected.

Diagnosis

Based on the clinical features. Radiographic studies of the vertebral column and the malformations ...

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