Goldenhar Syndrome is also known as Goldenhar Gorlin syndrome, facio-auriculo-vertebral dysplasia, unilateral craniofacial microsomia, first arch syndrome, first and second branchial arch syndrome, lateral facial dysplasia, velo-cardio[1]facial syndrome, otomandibular dysostosis, unilateral mandibulo facial dysostosis, unilateral intrauterine facial necrosis, auriculo branchiogenic dysplasia or facio-auriculo-vertebral malformation complex.
Goldenhar syndrome was first detected by Canton in 1861. It is a rare hereditary condition characterized by numerous anomalies affecting the first and second branchial arches of the first pharyngeal pouch, the first branchial cleft, and the primordia of the temporal bone before the end of organogenetic period (7th or 8th week of embryonic life) .
The aetiology of this disease is still unknown. Several hypotheses have been suggested. Gorlin and Pindborg 1964, proposed that certain abnormal process affects the mesoblasts embryologically which further affects the branchial and vertebral systems thereby resulting in this syndrome.
Dentofacial anomalies may include cleft lip and palate, tongue cleft, unilateral tongue hypoplasia, a highly arched palate, hypoplasia of the maxillary and mandibular arches, micrognathia, gingival hypertrophy, super numerary teeth, enamel and dentin malformations, and delayed tooth development are common. Some patients even exhibit asymmetric development of masticatory muscles and agenesis of salivary glands or salivary fistulas. Velopharyngeal insufficiency has been seen.
Various diagnostic aids such as ultrasonography, computed tomography and radiographic analysis should done to rule out the syndrome. Ultrasonography is done during pregnancy and can rule out severe hypoplasia of mandible, severe abnormality of the auricle, and cleft lip and/or cleft palate. Computed tomography is done for the evaluation of hearing to see the middle ear bones and to rule out skeletal findings radiographic analysis can be carried out.
Treatment of deformities requires multiple procedures performed by a multidisciplinary team of doctors, and a long-term regular follow-up is also important to monitor the growth and development of the patient.
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