Jayaprakasan Srilakshmi K, Waheed Muhammad Daniyal, Batool Saima, Pimentel Campillo Jorge, Nageye Maymona E, Holder Shaniah S
Paediatrics, Dr. B. R. Ambedkar Medical College and Hospital, Bengaluru, IND.
Internal Medicine, Foundation University Medical College, Islamabad, PAK.
Cureus. 2023 Mar 16;15(3):e36225. doi: 10.7759/cureus.36225. eCollection 2023 Mar.
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.
戈尔登哈综合征是一种罕见的先天性疾病，会影响颅面部区域、脊柱和耳朵的发育。其特征是症状范围广泛，严重程度各异，可能包括面部不对称、小耳畸形或无耳畸形、唇腭裂、脊柱异常和眼部异常。虽然戈尔登哈综合征的病因尚未完全明确，但据认为与受影响组织的早期胚胎发育中断有关。诊断通常基于体格检查和影像学检查，治疗可能需要包括遗传学家、听力学家和整形外科医生在内的多学科医疗团队。治疗方案取决于具体症状，可能包括手术、助听器和言语治疗。虽然戈尔登哈综合征会对受影响个体产生重大的身体和功能影响，但早期发现和适当管理有助于改善治疗效果和生活质量。
