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Goldenhar syndrome

Goldenhar syndrome - AKA Oculo-Auriculo-Vertebral (OAV) syndrome, sometimes used interchangably with Hemifacial Microsomia (although this definition is usually reserved for cases without internal organ/verterbrae disruption) - is a congentinal defect affecting between 1/3500 to 1/26000 live births in the UK. more...

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Symptoms

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palette, lip, and mandible on usually one side of the body. Additionally, there are often issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that whilst it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate inicidence 10% of confirmed GS cases).

Other problems can include scoliosis (twisting of the vertebrae), and lipodermoids (fat in the eye).

Causes

Causes of Goldenhar Syndrome are unknown, although there is anecdotal evidence linking it to exposure to certain toxins (e.g. dioxin) before or during pregnancy. There is circumstantial evidence suggesting the incidence of GS is higher in children of gulf war veterans (see gulf war syndrome).

Treatment

Treatment is usually confined to such surgical intervention as may be necessary to allow the child to develop normally (e.g. jaw transplants in cases where the patient would otherwise be unable to eat properly).

Read more at Wikipedia.org


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Goldenhar's syndrome - Letter to the Editor - Brief Article
Goldenhar's syndrome. (Letter to the Editor).
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