Goldenhar Syndrome: A Case of Atypical Presentation

Case Report A 14-year-old boy presented with multiple skin tags on the left preauricular region and left cheek [Figure 1]. Further examination revealed unilateral macrostomia of the left side [Figure 2a] and high arched palate [Figure 2b]. The combination of clinical features was suggestive of atypical presentation of Goldenhar syndrome, which is a rare entity. The nature of the condition, prognosis, and need for further investigations were explained to the parents. However, the parents insisted only on removing the skin tags, and the skin tags were removed under local anesthesia.Figure 1: Skin tags in the left preauricular region and cheekFigure 2: (a) Angle of the mouth extended far laterally on the left side (Macrostomia), (b) High arched palate and macrostomiaDiscussion Goldenhar syndrome, also known as oculo auriculo-vertebral dysplasia syndrome,[1] was first described by Maurice Goldenhar in 1952. He described the condition as a combination of congenital anomalies involving the first and second branchial arch structures. The classical features of the condition include coloboma of the eyelids, epibulbar dermoids, hearing loss, preauricular skin tags, vertebral anomalies such as hemivertebrae or scoliosis, Fallot’s tetralogy, situs inversus, and rarely renal hypoplasia or agenesis. Atypical presentations[2] such as microtia, macrostomia, cleft lip, cleft palate, high arched palate, hemifacial microsomia, and developmental delays may also be present. Management requires a multidisciplinary team approach involving ophthalmic, audiologic, surgical, speech, and occupational therapeutic specialists to enable a reasonable outcome. Declaration of patient consent The authors certify that they have obtained all appropriate consent forms, duly signed by the parent(s)/guardian(s) of the patient. In the form, the parent(s)/guardian(s) has/have given his/her/their consent for the images and other clinical information of their child to be reported in the journal. The parents understand that the names and initials of their child/children will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.