title: Blepharophimosis plus ovarian failure: a likely candidate for a contiguous gene syndrome.
abstract: We describe four females from three families with blepharophimosis, epicanthus inversus, and ptosis who were found to have premature ovarian failure. In two families the inheritance was autosomal dominant and in one it was a new mutation. Two females had, in addition, dysmorphic facial features which have been described in other cases. We suggest that the aetiology of the blepharophimosis ovarian failure syndrome is a contiguous gene syndrome.
authors.affiliation: Cytogenetics Unit, Oliver Latham Laboratory, NSW Department of Health, Sydney, Australia.
authors.forename: A
authors.initials: A
authors.lastname: Smith
authors.forename: I S
authors.initials: IS
authors.lastname: Fraser
authors.forename: R P
authors.initials: RP
authors.lastname: Shearman
authors.forename: P
authors.initials: P
authors.lastname: Russell
mesh_terms: D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007247:Infertility, Female / Q000235:genetics; D010375:Pedigree; D013577:Syndrome