Panidis D, Rousso D, Vavilis D, Skiadopoulos S, Kalogeropoulos A
Third Department of Obstetrics and Gynaecology, Aristotelian University, Hippokration Hospital, Thessaloniki, Greece.
Hum Reprod. 1994 Nov;9(11):2034-7. doi: 10.1093/oxfordjournals.humrep.a138389.
Three cases including two sisters and one brother with blepharophimosis are described. Their father also had blepharophimosis. Moreover, the elder sister initially presented with resistant ovary syndrome and thereafter true premature menopause, while the younger one presented with resistant ovary syndrome. The explanation for the association of blepharophimosis with primary ovarian dysfunction is unknown, but the possibility of a microdeletion of genetic material containing two geographically associated, but independent genes could not be confirmed or excluded. All families affected by blepharophimosis should be counselled about the high incidence of ovarian dysfunction and female infertility, at least in one form of the syndrome.
本文描述了三例睑裂狭小综合征患者，包括两姐妹和一个兄弟。他们的父亲也患有睑裂狭小综合征。此外，姐姐最初表现为卵巢抵抗综合征，随后出现真性早绝经，而妹妹则表现为卵巢抵抗综合征。睑裂狭小综合征与原发性卵巢功能障碍相关的原因尚不清楚，但含有两个在地理上相关但独立的基因的遗传物质微缺失的可能性无法得到证实或排除。所有受睑裂狭小综合征影响的家庭都应接受咨询，了解卵巢功能障碍和女性不孕症的高发病率，至少在该综合征的一种形式中是如此。
