The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.
The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.
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DOI：
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发表时间：
1983-09
影响因子：
9.8
通讯作者：
J. Zlotogora;M. Sagi;T. Cohen
中科院分区：
文献类型：
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作者：
J. Zlotogora;M. Sagi;T. Cohen
眼睑下垂、上睑下垂及内眦赘肉倒置综合征（BPES）是罕见的常染色体显性遗传病。本文介绍了一个家庭，并对文献报道的38种BPES进行了分析。结果表明，存在两种类型的综合征：1型与不孕不育在受影响的女性，2型是由女性和男性传播。这两种实体进一步区分为仅在II型中不完全外显率和受影响儿童的性别比例差异。女性不孕症在I型是一个主要症状，和两种类型的区别是重要的遗传咨询。
The blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is rare and autosomal dominant. A family is presented and analyzed together with 38 kindreds with BPES reported in the literature. The results demonstrate the existence of two types of the syndrome: type I with infertility in affected females, and type II which is transmitted by females and males. The two entities are further differentiated by incomplete penetrance only in type II and by differences in the sex ratios of the affected children. Female infertility in type I is a predominant symptom, and the distinction between the two types is of importance for genetic counseling.