DOI: 10.36347/sjmcr.2018.v06i02.003

Pages: 71-73

Goldenhar syndrome is a rare disease that was first described in the early 1950s. It is characterized by a polymalformative syndrome most commonly associated with an epibulbar dermoid cyst, pretragalian diverticula and facial anomalies. We report a case of Goldenhar syndrome, where almost all the classic signs of this rare disease were present including transmission deafness. A 7-year-old girl was examined in our department of otolaryngology and maxillofacial surgery in Rabat, a facial asymmetry, associated with right facial paralysis and hypoplasia of the right mandible. At the otological examination we notice the presence of pretragian tubercles without pre-fistulae with agenesis of the right pavilion. The right external acoustic meatus is stenosed not allowing visualizing the eardrum. At the audiogram: transmission deafness more marked on the right. CT of the temporal bone shows a major aplasia on the right side and minor aplasia on the left side. Gorlin, in 1963, suggested the name of oculo-auriculo-vertebral spectrum (OAVS) and it also included vertebral anomalies as signs of this syndrome. The etiology of the oculo-auriculo-vertebral spectrum remains uncertain. However, there are important arguments in favor of the existence of multiple causes and it seems to be a heterogeneous etiologic group.