Hypergonadotropic Hypogonadism in a 3-Yea r-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome
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چکیده
منابع مشابه
Hypergonadotropic 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 کاملBlepharophimosis, 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...
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We report on a young female patient with the clinical features of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES, OMIM 110100) and a balanced chromosome translocation 46, XX, t(2;3)(q33;q23)dn.BPES is a rare autosomal dominant congenital disorder characterized by the eponymous oculo-facial features that are, in female patients, associated either with (type 1 BPES) or without (type 2...
متن کاملNovel occurrence of Axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome
Blepharophimosis ptosis epicanthus inversus syndrome (BPES) is a complex eyelid malformation characterized by the classical tetrad of blepharophimosis, telecanthus, ptosis, and epicanthus inversus. It has been reported to be associated with other ocular anomalies such as euryblepharon, strabismus, nystagmus, amblyopia, microphthalmos, lacrimal drainage apparatus abnormality, extra ocular muscle...
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...
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ژورنال
عنوان ژورنال: Hormone Research
سال: 1998
ISSN: 1423-0046,0301-0163
DOI: 10.1159/000023300