GOLDENHAR SYNDROME: A CASE REPORT
Journal: Era's Journal of Medical Research (Vol.05, No. 02)Publication Date: 2019-12-30
Authors : Pragati Garg Priyanka Raj;
Page : 185-187
Keywords : Goldenhar syndrome; Golenhar-gorlin syndrome; Epibulbar dermoid; Eyelid coloboma; Hemifacial macrosomia; Oculo; auriculo; Vertebral spectrum.;
Abstract
To report an unusual variant of Goldenhar syndrome We reviewed a 7 year old boy attending our OPD with left upper eyelid coloboma and multiple congenital deformities including auricular, facial and vertebral abnormalities like microtia, hemifacialmicrosomia, cleft palate, dental abnormalities, kyphoscoliosis and tilted optic disc. He underwent radiological imaging and thorough ocular & systemic examination which were suggestive of Goldenhar syndrome. The most common ocular finding of Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum, is epibulbar dermoid, which was absent in our case, instead there was upper-eyelid coloboma and tilted optic disc. However other facial, auricular and skeletal deformities were in concordance with the spectrum of Goldenhar Syndrome. Goldenhar syndrome consists of a large spectrum of congenital abnormalities and patients might not present with the most diagnostic ocular features. Hence, its diagnosis and treatment requires a multidisciplinary approach.
Other Latest Articles
- A CASE OF PARTHENIUM DERMATITS IN A MIDDLE AGED FEMALE
- A CASE OF CHEMICAL LEUKODERMA EFFECTIVELY TREATED WITH PUNCH GRAFT SURGERY
- A LOOK AT THE DIFFICULTIES IN THE DIAGNOSIS, MANAGEMENT AND TREATMENT OF PATIENTS WITH SCHIZOAFFECTIVE DISORDER
- The common problems encountered during orthodontic
- Early orthognathic approach combined with SABG for congenital dentofacial deformity-A rare case report
Last modified: 2019-08-28 19:15:41