title: Epiphyseal, vertebral, and ear (EVE) dysplasia: a new syndrome?
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.
authors.affiliation: Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
authors.forename: J
authors.initials: J
authors.lastname: Amiel
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: P
authors.initials: P
authors.lastname: Journeau
authors.forename: P
authors.initials: P
authors.lastname: Mussat
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D002648:Child; D004423:Ear / Q000002:abnormalities*; D004838:Epiphyses / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D011597:Psychomotor Performance; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome