Hereditary Ptosis with Epicanthus: A Case with Pedigree Extending over Four Generations
نویسندگان
چکیده
منابع مشابه
A Case Report of Incontinentia Pigmenti in a Newborn with Positive Family History Extending Over Three Generations
Background: Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genodermatosis that presents at the time of birth or soon after birth with cutaneous manifestation. This disorder may also affect the ectodermal tissues, such as the central nervous system, skeletal system, eyes, hair, nails, and teeth. The dermatological findings occur in four successi...
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 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...
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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...
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There have been several experiments 10,11,12,13 which suggest neutrino oscillations. To explain the solar, atmospheric and LSND data within the framework of neutrino oscillations, it is necessary to have at least four kinds of neutrinos. It has been shown in the two flavor framework that the solar neutrino deficit can be explained by neutrino oscillation with the sets of parameters (∆m⊙, sin 2 ...
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ژورنال
عنوان ژورنال: Proceedings of the Royal Society of Medicine
سال: 1930
ISSN: 0035-9157
DOI: 10.1177/003591573002300325