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ISSN 2070-8718 (Print)

2011, Number 2

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Rev Cub Gen 2011; 5 (2)

Goldenhar syndrome: Report of five cases diagnosed in the Republic of Ecuador

Matos EF, Lardoeyt FR

Language: Spanish
References: 15
Page: 127-132
PDF size: 824.84 Kb.


ABSTRACT

The Goldenhar syndrome has been considered for many years to be a polymalformation result of the spectrum type, involving structures derived from the first and second pharyngeal arches. It is a rare disease with a prevalence of 1/25 000 born alive but, nevertheless, during the first clinical genetic study of this disability in the Republic of Ecuador, a higher frequency was observed in the whole country. It drew attention that the cases studied showed slight clinical signs that could be undetected and evaluated as an isolated microtia or a congenital deformity generating a hearing disability. Considering the repercussion of the variable signs of this disease, that might be underdiagnosed, a previously validated methodology was applied that allowed a precise diagnosis of the disease to be made. Five cases are presented, three of which have a possible recessive autosomal heritage, while the other two can be considered as new mutations. It is concluded that this syndrome has a highly variable expressivity, relatively frequent in the Republic of Ecuador, specially frequent in the highland. The importance of homeotic genes in the genesis of craniofacial syndromes as the Goldenhar syndrome is addressed.


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