Townes P L, Muechler E K
Arch Ophthalmol. 1979 Sep;97(9):1664-6. doi: 10.1001/archopht.1979.01020020232010.
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.
睑裂狭小、上睑下垂和内眦赘皮综合征是一种罕见但有充分文献记载的常染色体显性疾病。尽管常染色体显性遗传已被反复证实，但一些观察者指出，该性状的传递主要通过受影响的男性亲本。据我们所知，尚未有已发表的观察结果能解释这种不寻常的差异传递。本文描述了一个具有该疾病典型特征的家族，此外，患病女性还存在原发性闭经。这种原发性闭经在此疾病中此前未有记载，它确实解释了该家族以及可能其他家族中的差异传递现象。由于受影响的个体由眼科医生治疗，在患者及其家族的管理中应认识到这种眼外表现的可能发生。
