Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
case_report · Level V
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- Record sourced from PubMed, PMID 10424819.
- Also identified by PMC identifier 1734413.
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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.
Medical subject headings
- Ear
- Epiphyses
- Spine