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Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?

This paper is available in a repository.
This paper is available in a repository.

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Abstract

We report on the association of epiphyseal, vertebral, and ear dysplasia in two sisters with normal stature and psychomotor development born to distantly related, healthy parents. This distinctive association has not been reported previously and is likely to represent a new condition with an autosomal recessive mode of inheritance. For this syndrome, we propose the acronym EVE standing for epiphyseal, vertebral, and ear dysplasia.


Keywords: epiphyseal; verterbal; and ear (EVE) dysplasia; new syndrome