title: Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait.
abstract: The syndrome of blepharophimosis, ptosis, and epicanthus inversus is a rare but well-documented autosomal dominant disorder. Although autosomal dominant inheritance has been repeatedly confirmed, several observers have noted that transmission of the trait is predominantly through an affected male parent. To our knowledge, no published observations have accounted for this unusual differential transmission. Described here is a family with typical features of this disorder and in addition primary amenorrhea in the affected women. The primary amenorrhea, which has not been previously documented in this disorder, does account for differential transmission in this family and possibly in other families. Since affected individuals are treated by ophthalmologists, the possible occurrence of this extraocular manifestation should be recognized in the management of patients and their families.
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000568:Amenorrhea / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D001763:Blepharoptosis / Q000150:complications / Q000151:congenital / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D010901:Pituitary Function Tests; D013577:Syndrome