Goldenhar syndrome, a range of clinical possibilities

Abstract

Background: Goldenhar syndrome is a little-known clinical entity, that causes malformations mainly in the face, eyes, spine, and ears. It most frequently affects males; 85 % of the cases involve the hemiface, with the right side being the most common. Case report: Male newborn, product of first gestation, 19-year-old mother, without pathologic history and adequate prenatal control, at birth evidenced multiple craniofacial malformations described as a scleral dermoid cyst in the right eye involving the lower temporal and upper corneal regions and a coloboma, an auricular pavilion with right microtia, and in the ipsilateral hemiface a slightly elevated epidermal lesion, irregular, with defined borders, with malar, zygomatic, and preauricular involvement with micropapules, in addition to a dermoid lesion suggestive of skin aplasia. For all the anomalies described, he was diagnosed with Goldenhar syndrome. Conclusions: The pathophysiologic origin is not well defined; however, it has been described as being caused by an alteration of the structures derived from the first and second brachial arches, influenced by little-known external factors. In this case, although the pregnant woman attended all prenatal controls, this congenital alteration was only evidenced at the time of delivery, so we emphasize the expertise of clinicians to know the rare anomalies and thus make a timely diagnosis and an effective approach with a multidisciplinary team as they condition a better prognosis and quality of life in patients.