Oculo-auriculo-vertebral Spectrum (Goldenhar Syndrome): Presentation of Three Cases
Publish place: The Iranian Journal of Neonatology، Vol: 12، Issue: 4
Publish Year: 1400
نوع سند: مقاله ژورنالی
زبان: English
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شناسه ملی سند علمی:
JR_IRJN-12-4_015
تاریخ نمایه سازی: 23 آبان 1400
Abstract:
Background: The oculo-auriculo-vertebral spectrum (OAVS) includes three closely related rare congenital diseases of different severity with an incidence of ۱/۳۵۰۰-۷۰۰۰ individuals. The involvement is usually unilateral; however, bilateral involvement may also occur. In addition to craniofacial anomalies, defects in the cardiovascular, genitourinary, vertebral, and central nervous systems can be observed as well. The phenotype of the cases is highly variable. Goldenhar syndrome is the most severe form of this condition.Case report: In total, three instructive cases of Goldenhar syndrome with different features have been reported in the present case study. The most common ear anomalies among these three cases included external auditory canal atresia, helix deformities, preauricular skin tag and/or ear pitting, microtia, and conductive hearing loss. The second case was presented with hemifacial microsomia on the more severely affected right side, and the third case had bilateral Brushfield spots and a dermolipoma ophthalmological findings.Conclusion: Based on the findings of the present study, OAVS should also be considered in the differential diagnosis of the cases with facial and ear anomalies.
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Authors
Samet Benli
Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, Elazig, Turkey
Atika Çağlar
Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, Elazig, Turkey
Erdal Taşkin
Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, Elazig, Turkey
Mustafa Aydin
Pediatrics-Neonatology Department, Faculty of Medicine, Firat University, Elazig, Turkey
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