FP1188 : Oculo-Auriculo-Vertebral Dysplasia (Goldenhar Syndrome); A Case Report

Dr. Bhawesh Chandra Saha, S16436, Dr.Rashmi Kumari, Dr. Aastha Singh, Dr. Abhishek Anand

Goldenhar Syndrome or oculo-auriculo-vertebral dysplasia, is a rare syndrome. The incidence of this syndrome is about 1 in 5600 live births. The typical presentation of Goldenhar syndrome includes epibulbar dermoids, microtia, mandibular hypoplasia . The phenoypic 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 .We by report a case with classical triad that is Hemi facial microsomia, epibulbar dermoid and Deformity of ears with pre auricular appendage along with Hemi vertebral loss of vertebral arch and fusion of posterior elements which is an uncommon association.

 

FP240 : Goldenhar Syndrome (GS) with Renal Agenesis and Polysplenia

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