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2014 ; 8
(4
): ZD17-9
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Goldenhar syndrome - review with case series
#MMPMID24959523
Ashokan CS
; Sreenivasan A
; Saraswathy GK
J Clin Diagn Res
2014[Apr]; 8
(4
): ZD17-9
PMID24959523
show ga
Goldenhar's syndrome is a rare condition which was described initially in the
early 1950s. It is characterized by a combination of anomalies: dermal epibulbar
cysts, auricular appendices and malformations of the ears. In 1963, Gorlin
suggested the name, oculo-auriculo-vertebral (OAV) dysplasia for this condition
and he also included vertebral anomalies as signs of this syndrome. The aetiology
of this rare disease has not been fully understood, as it has shown itself to be
variable genetically and to be caused due to unclear reasons. Here, we are
reporting two cases of Goldenhar's syndrome, where almost all the classical signs
of this rare condition were present.