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A Brief Discussion on Goldenhar Syndrome


Sreekanth P Kunjumon*

Oculo-auriculo-vertebral distortion and hemi facial macrosomia are additional names for Goldenhar Syndrome (GS). The oral cavity, eyes, ear, and vertebrae are the biggest areas affected by this disease. It is a very uncommon genetic anomaly. With a short outline of its etiology, clinical and radiographic features, differential diagnosis, and management, we describe a case of GS here. Goldenhar syndrome is a rare condition which is characterized by a multitude of anomalies involving craniofacial structures, vertebrae, internal organs and usually occurs unilaterally. The etiology of this syndrome is unclear since it varies genetically and is linked to a plethora of reasons. Common clinical manifestations include limbal dermoids, preauricular skin tags and strabismus. It is associated with anomalous development of the irst branchial arch and second branchial arch. The main sign and symptoms are facial asymmetry (one side of the face is different from the other), a partially formed ear (microtia) or totally absent ear (anotia), noncancerous (benign) growths of the eye (ocular dermoid cysts), and spinal abnormalities. Goldenhar disease may also affect the heart, lungs, kidneys, and central nervous system. It is due to problems that occur when the fetus is forming within the womb of the mother, in structures known as the irst and second brachial arch. These structures will develop to form the neck and the head. The cause is still unknown. Goldenhar syndrome is part of a group of conditions known as craniofacial microsomia. It is not known whether the conditions included in the group really are different conditions or part of the same problem with different degrees of severity.

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Annals of Medical and Health Sciences Research The Annals of Medical and Health Sciences Research is a bi-monthly multidisciplinary medical journal.
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