Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review

Abstract

Abstract Background To report a case of a 4-year-old patient with Goldenhar syndrome. Case presentation The author presents a rare case report involving a 4-year-old boy with multiple malformations. A comprehensive examination showed that the patient primarily had a limbal dermoid. He also has bilateral microtia and ear canal deformities. The skull CT scan and spine X-ray showed Maxillofacial Abnormalities and scoliosis. Whole Exome Sequencing revealed potential gene variations related to microtia. Although certain circumstances prevented us from initiating follow-up treatment for the patient, we have provided a detailed account of the diagnostic methodologies used for this condition. Conclusions Goldenhar syndrome is a congenital condition, predominantly presenting as sporadic cases. Its diagnosis and management typically necessitate the involvement of multiple disciplines, including otolaryngology and craniofacial surgery. The syndrome encompasses a variety of craniofacial features, which can facilitate early diagnosis and guide subsequent therapeutic interventions.

Keywords

• Goldenhar syndrome
• Hemifacial microsomia
• Mandibular hypoplasia
• Epibulbar dermoid