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
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.
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