Blepharophimosis, ptosis, epicanthus inversus, and primary amenorrhea. A dominant trait
P. L. Townes and E. K. Muechler
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.
