Goldenhar Syndrome

Resident’s Name: Chad Abby Date: 9/26/2008


Goldenhar Syndrome: - is a variant of hemifacial microsomia

What is affected in the syndrome?
A congenital birth defect causing facial deformities that usually only involves one side of the face. The characteristics include:
-a partially formed or totally absent ear
-unilateral or bilateral underdevelopment of the mandible
-one corner of the mouth may be slightly higher then the other
-unilateral or bilateral reduction in size or flattening of the maxilla
-benign growths of the eye or a missing eye, narrowing of the opening of the eye
There may also be developmental issues with internal organs especially the heart, kidneys and lungs which will either not be developed on one side or show underdevelopment.

Why?
Cause of goldenhar syndrome is unknown, however it is thought that it is caused by a vascular accident in the fetus. It is not genetically linked. It is usually associated with improper development of the first and second branchial arch. There have been recent accounts of familial patterns.

When – in the child’s life is the diagnosis made?
Detection can be made early in life due to hearing issues and possible visual disturbances. Skeletal deformities become more apparent as the child grows and matures.

Factors that can influence dental care or cause the need for dental treatment?
Goldenhar can cause bilateral or unilateral underdevelopment of the mandible and bilateral or unilateral reduction in size of the maxilla. This will cause dental malocclusion and possibly breathing problems which need to be addressed surgically and orthodontically. Jaw deformity is addressed as early as three if mandibular retrusion is causing difficulty with breathing. Jaw reconstruction is performed surgically through distraction osteogenesis and orthodontic treatment will be needed to maintain adequate dental occlusion throughout life.

Systemic or medical conditions associated with the syndrome that are critical concerns for dental work?
In some cases of Goldenhar Syndrome there can be heart problems. Heart issues that require SBE prophylaxis include:
-Artificial valves or serious congenital heart conditions such as unrepaired or incompletely repaired cyanotic congenital heart disease
-A completely repaired congenital heart defect with prosthetic material or device during the first six months after the procedure.
-Any repaired congenital heart defect with residual defect at the site or adjacent to the site of a prosthetic patch or a prosthetic device

If treating a Goldenhar patient it’s best to send medical consent to the patients doctor before starting treatment.

Information that has been recently learned?

Recently studies have shown a possible connection of Goldenhar Syndrome among infants born in military hospitals to Gulf War veterans. A study was performed due to gulf war veterans’ concerns about a possible excess of Goldenhar Syndrome among their infants. The results are inconclusive due to the small amount of cases reported in the study.