Goldenhar Syndrome: An Atypical Presentation With Developmental and Speech Delay.
| Autor: | Jayaprakasan SK; Paediatrics, Dr. B. R. Ambedkar Medical College and Hospital, Bengaluru, IND., Waheed MD; Internal Medicine, Foundation University Medical College, Islamabad, PAK., Batool S; Internal Medicine, Hameed Latif Hospital, Lahore, PAK., Pimentel Campillo J; Internal Medicine, CEDIMAT, Santo Domingo, DOM., Nageye ME; Internal Medicine, Avalon University School of Medicine, Willemstad, CUW., Holder SS; Medicine, American University of Barbados School of Medicine, Bridgetown, BRB. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Mar 16; Vol. 15 (3), pp. e36225. Date of Electronic Publication: 2023 Mar 16 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.36225 |
| Abstrakt: | Goldenhar syndrome is a rare congenital disorder that affects the development of the craniofacial region, spine, and ears. It is characterized by a wide range of symptoms that can vary in severity and may include facial asymmetry, microtia or anotia, cleft lip or palate, vertebral anomalies, and eye abnormalities. Although the cause of Goldenhar syndrome is not fully understood, it is thought to be related to disruptions in the early embryonic development of the affected tissues. The diagnosis is typically made based on physical examination and imaging studies, and management may involve a multidisciplinary team of healthcare professionals, including geneticists, audiologists, and plastic surgeons. Treatment options depend on the specific symptoms and may include surgery, hearing aids, and speech therapy. While Goldenhar syndrome can have significant physical and functional implications for affected individuals, early detection and appropriate management can help improve outcomes and quality of life. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Jayaprakasan et al.) |
| Databáze: | MEDLINE |
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