AI Article Synopsis
- - The case report discusses a 4-year-old boy diagnosed with Goldenhar syndrome, characterized by multiple malformations such as a limbal dermoid, bilateral microtia, and ear canal deformities.
- - Diagnostic imaging revealed additional issues like maxillofacial abnormalities and scoliosis, while genetic testing indicated possible gene variations linked to microtia.
- - Goldenhar syndrome is a rare congenital condition that requires a multidisciplinary approach for effective diagnosis and treatment, highlighting the need for specialists like otolaryngologists and craniofacial surgeons.
Article 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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10882892 | PMC |
| http://dx.doi.org/10.1186/s12886-024-03317-9 | DOI Listing |
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