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Case Reports
. 2020 Oct-Dec;64(4):444-448.
doi: 10.22336/rjo.2020.68.

Goldenhar syndrome: the importance of an ophthalmological approach

Pio Guilherme Malta  1   2 , da Silva Rezende Aline Vilani  1 , Cordeiro Frederico de Miranda  1   3 , Ibrahim Larissa Fouad  1 , Curi Cláudio Castro  1 , Moura Érica Borgatti  4
Affiliations
Case Reports

Goldenhar syndrome: the importance of an ophthalmological approach

Pio Guilherme Malta et al. Rom J Ophthalmol. 2020 Oct-Dec.

Abstract

The article describes a case of Goldenhar syndrome that had been diagnosed by an ophthalmologist in a medical consultation by school bullying due to a choristoma. A 15-year-old male patient, who had a nodular lesion with hair in the inferior temporal corneal-limbo-conjunctival of the left eye, was reported. He also had a facial asymmetry, with mild mandibular hypoplasia and malformation of the left external ear, where only an auricular appendage was formed. He denied similar family history and the history of genetic diseases, but revealed that his mother had used ibuprofen during the first 3 months of pregnancy and had gestational diabetes mellitus. Excisional biopsy of the eye lesion was performed and revealed a dermoid cyst. After the exegesis and with adequate multidisciplinary monitoring, the patient reported being very satisfied with the aesthetic result, returning with more confidence to his daily activities. That was a typical case of Goldenhar syndrome that has remained undiagnosed and untreated for more than a decade due to a lack of diagnosis despite its classic presentation. The delay in the approach resulted in social stigma and profound psychosocial damage. The importance of disseminating the correct knowledge of this pathology and of having an early multidisciplinary approach in these patients is emphasized, since the impact on the quality of life is significantly high.

Keywords: Goldenhar syndrome; choristoma; craniofacial microsomia; dermoid cyst.

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Figures

Fig. 1
Fig. 1
Ectoscopy. A) Facial asymmetry due to mandibular hypoplasia and left ear alteration. B) Absence of auditory pavilion and presence of auricular appendage. C) There is a corneal-limbo-conjunctival dermoid cyst in the left eye, where hair follicles can be noticed
Fig. 2
Fig. 2
Excisional biopsy. The strong adhesion of the lesion to the deep tissues of the cornea is observed
Fig. 3
Fig. 3
Postoperative appearence. A) 7th day postoperative - 10-0 silk sutures can be observed. B) 12th day postoperative - corneal leukoma at the lesion excision site
See this image and copyright information in PMC

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