Goldenhar Syndrome: About A Case
Journal Title: Scholars Journal of Medical Case Reports - Year 2018, Vol 6, Issue 2
Abstract
Abstract: 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.
Authors and Affiliations
Jawad LAHMA, Reda HEJJOUJI, Abdelilah OUJILAL, Mohammed Anas BENBOUZID, Leila ESSAKALLI HOSSYNI
Keywords
Related Articles
- EP ID EP481785
- DOI -
- Views 73
- Downloads 0
Penetrating Thoracic Injury with an Iron Rod: An Emergency Service Experience
Abstract: Penetrating thoracic injury by a foreign body is a potential cause of high morbidity and mortality. We report a 10-years-old male having impalement injury on the right inferior thoracic region with a metallic...
Preexcitation Syndrome and Myocardial Infarction a Case Report and Literature Review
The electrocardiogram allows easy recognition of myocardial infarction and preexcitation syndromes but may cause confusion when both conditions are present simultaneously. The preexcitation syndrome may either simulate m...
Interposition Gap Arthroplasty of Ankylosed TMJ: A Case Report and Review of the Literature
The temporomandibular joint (TMJ) is the most active, functioning joint of the body. Limitations of the mouth opening and deformity of the lower jaw can be caused by bony or fibrous anky¬losis of the TMJ due to various r...
Osteoid Osteoma of Tibia Treated By Surgical Management Novel Method: A Case Report
Osteoid Osteoma is common benign tumor of the bone. It is commonly seen in the 2nd & 3rd decades, more often between 5-30 years with predilection to males. It involves the appendicular skeleton & the spine more often, ra...
Rare Case of Bilateral High Division of Sciatic Nerve with Bilateral Bifid "Divided" Piriformis and Unusual Perforating Branches of Profunda Femoris Vessels Crossing Posterior to the Nerve
This is a very rare case of bilateral high division of sciatic nerve of a 49 years old male Sudanese cadaver, with bilateral divided piriformis muscle(superior larger and inferior smaller). In this case the Sciatic nerve...