منابع مشابه
Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES syndrome)
Although von Ammon' first used the term blepharphimosis in 1841, it was Vignes2 in 1889 who first associated blepharophimosis with ptosis and epicanthus inversus. In 1921, Dimitry3 reported a family in which there were 21 affected subjects in five generations. He described them as having ptosis alone and did not specify any other features, although photographs in the report show that they proba...
متن کاملBlepharophimosis, Ptosis, and Epicanthus Inversus FOXL2 Normal Gene Product
Forkhead transcription factor. More than 20 human forkhead genes are known and several have been implicated in tumorigenesis (see review in Carlsson & Mahlapuu [2002]). So far, mutations in eight different forkhead genes have been associated with human developmental disorders. Their phenotypes are pleiotropic and include ocular, craniofacial, circulatory, skeletal, immune and gonadal defects. F...
متن کاملBilateral ptosis following wasp sting.
We report a case of bilateral ptosis due to wasp sting which was completely treatable.
متن کاملHypergonadotropic hypogonadism in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome.
We report on ovarian dysfunction in a 3-year-old girl with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). A gonadotropin releasing hormone test showed hyperresponses of luteinizing hormone (<0.2-->7.2 mIU/ml) and follicle-stimulating hormone (7.1-->44.8 mIU/ml), and a human menopause gonadotropin test yielded no estradiol response (13-->11 pg/ml). The results suggest that pr...
متن کاملEtiology of craniofacial malformations in mouse models of blepharophimosis, ptosis and epicanthus inversus syndrome.
Blepharophimosis, ptosis, epicanthus-inversus syndrome (BPES) is an autosomal dominant genetic disorder characterized by narrow palpebral fissures and eyelid levator muscle defects. BPES is often associated to premature ovarian insufficiency (BPES type I). FOXL2, a member of the forkhead transcription factor family, is the only gene known to be mutated in BPES. Foxl2 is essential for maintenanc...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1931
ISSN: 0035-9157
DOI: 10.1177/003591573102400703