Goldenhar's Syndrome: a Case Series With Literature Review and Update

Logan, Greg

Statement of the problem

Goldenhar's syndrome is a birth defect resulting from the mal-development of the first two branchial arches, with incomplete development of the ear, nose, soft palate, lip and mandible. The phenotype is highly variable. The classic triad is mandibular hypoplasia resulting in facial asymmetry, ear and/or eye malformation, and vertebral anomalies.

These patients require multiple surgeries at different stages of their lives including Surgical management involves craniofacial reconstruction. Supportive multidisciplinary management, including departments such as paediatric cardiology, audiology, ophthalmology and plastic surgery.²

Materials and methods

An extensive literature search of the published data was completed using MEDLINE and PubMed databases. The search included the terms ‘Goldenhar’s Syndrome and ‘oculo-auriculo-vertebral dysplasi’,’ oculo-auriculo-vertebral spectrum.’ It was limited to the English language.

Results

The literature search found 138 articles reporting on patients with Goldenhar’s syndrome. After careful review 24 were excluded either due to the irrelevance of subject matter or the case having already been reported in an earlier with no additional clinical benefit in the new report. The articles reviewed provided new information concerning genetic etiology of the syndrome and new treatment modalties for complications. We Report on 4 cases Of Goldenhar’s Syndrome detailing their treatment with an update on the literature.

Conclusions

Goldenhar’s Syndrome is rare; Incidence is approximately 1 per 25-45,000 births. Most cases are sporadic, but there are rare familial cases that exhibit autosomal dominant inheritance. Goldehar’s patients require multiple surgeries to correct defects and relapse is a known complication.^{1, 2}Our cases show with surgery, correction of the facial deformity can be achieved. This may allow for tracheostomy decannulation and removal of the gastrostomy tube in many patients. The institution of normal respiration and feeding with improvement in hearing and physical appearance can greatly increase the quality of life of patent with this syndrome

References:

Martelli-Junior H, Miranda RT, Fernandes CM, et al; Goldenhar syndrome: clinical features with orofacial emphasis. J Appl Oral Sci. 2010 Dec;18(6):646-9.
Hemifacial Microsomia, Online Mendelian Inheritance in Man (OMIM)