From the Research
Definition and Characteristics of Goldenhar Syndrome
- Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is a rare congenital disease arising from the abnormal development of the first and second branchial arches 1.
- It is characterized by ocular anomalies, such as epibulbar dermoids, microphthalmia, and coloboma, as well as ENT features like preauricular tragi, hearing loss, and low implantation of the auricular pavilion 1, 2.
- Vertebral anomalies, including scoliosis or hemivertebrae, are also common in individuals with Goldenhar syndrome 1, 3.
Congenital Nature of Goldenhar Syndrome
- Goldenhar syndrome is considered a congenital disorder, believed to be caused by the defective development of the first and second brachial arches and the first brachial clefts during embryologic development 2.
- The syndrome is thought to result from abnormal prenatal development of the head and face, leading to subsequent asymmetry of craniofacial structures 3.
- The condition is generally sporadic, with an incidence ranging from 1:3,500 to 1:5,600 live births and a gender ratio of 3:2 (male:female) 1, 3.
Clinical Manifestations and Diagnosis
- Goldenhar syndrome presents a wide range of clinical manifestations, including ocular, auricular, and vertebral anomalies 1, 4.
- Diagnostic imaging, such as cone beam computed tomography, plays a crucial role in characterizing the syndrome and planning interdisciplinary intervention 4.
- A multidisciplinary approach is often necessary to manage the complex problems associated with Goldenhar syndrome, requiring coordination among oral and maxillofacial radiologists, medical and dental specialists, and other healthcare professionals 1, 4.