%0 Review
%T Goldenhar syndrome with limbal neoformation, microtia and skeletal deformities: a case report and literature review.
%A Fu Y
%A Yu H
%A Zhang J
%A Zhou N
%J BMC Ophthalmol
%V 24
%N 1
%D 2024 Feb 22
%M 38388885
%F 2.086
%R 10.1186/s12886-024-03317-9
%X <B>BACKGROUND: </B>To report a case of a 4-year-old patient with Goldenhar syndrome.<BR><B>METHODS: </B>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.<BR><B>CONCLUSIONS: </B>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.