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Common birth defect of vascular origin involving first and second branchial arch derivatives, resulting mainly in hemifacial microsomia with anomalies of the ear, eye, and vertebral bodies. Usually associated with 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). Epibulbar dermoids. Limited mouth opening, micrognathia, cleft palate.

Goldenhar Syndrome

Facial asymmetry with mandibular hypoplasia, agenesis of the parotid gland, eyelid coloboma, blepharophimosis, microphthalmia, and anomalies of the ear with atresia of the external auditory canal characterize Goldenhar syndrome in a 9-year-old boy.

Goldenhar Syndrome

Frontal three-dimensional reconstruction of the CT scan (of a different patient) confirms the findings.

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

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.

Frequency ranges from 1:3000-26,500 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.

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

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.

Based on the clinical features. Radiographic studies of the vertebral column and the malformations of the mandible and its annexes may be a useful diagnostic aid. Muscular lesions (hypotrophic and hypoplastic muscles) are associated with these skeletal malformations.

Variable phenotypic expression, ranging from mild to severe cases even within the same affected family. The presence of a scleral dermolipoma on the lateral aspect of the eyeball is a condition sine qua ...

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