Dr. Bhawesh Chandra Saha, S16436, Dr.Rashmi Kumari, Dr. Aastha Singh, Dr. AbhishekAnand
Abstract;
Goldenhar Syndrome or oculo-auriculo-vertebral dysplasia, is a rare syndrome developing from first and second pharyngeal arches during Blastogenesis. This condition was documented in 1952 by Maurice Goldenharr. The incidence of this syndrome is about 1 in 5600 live births with a male preponderance of 3:2. Most of these cases are sporadic but an autosomal dominant pattern is observed. Goldenhar syndrome has a wide range of manifestations including craniofacial, vertebral, cardiac, renal and central nervous system anomalies. The classic facial aspect of Goldenhar syndrome is described as hemi facial microsomia. The typical presentation of Goldenhar syndrome includes epibulbar dermoids, microtia, mandibular hypoplasia, strabismus . The phenotypic findings of this syndrome is variable due to heterogenous etiology. Preauricular skin tags seen in 90% of cases, Microtia in 52%,Hemifacial microsomia in 77%, Epibulbar Dermoid in 39% of cases. Vertebral anomalies were noted in 7% of cases. Cardiac manifestation are found in 39% of ca