Blepharophimosis syndrome: association with colobomatous microphthalmos
نویسندگان
چکیده
منابع مشابه
Microphthalmos with colobomatous orbital cyst: clinical, histological, immunohistological, and electronmicroscopic findings.
A case of unilateral microphthalmos with orbital cyst is presented. This rare and severe malformation is a non-hereditary disorder. Pathologically it represents a failure in the closure of the embryonic fissure at the 7-14 mm stage of gestation. Staining for neurofilaments permitted the identification of rudimentary optic nerve fibers within the gliomatous cyst wall. Special stains for glial fi...
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This study confirms the previously suggested high incidence of menstrual irregularity and infertility in females with the blepharophimosis syndrome.
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...
متن کاملVisual development in the blepharophimosis syndrome.
One hundred and one cases of the blepharophimosis syndrome presenting over a decade are reviewed with particular attention to the factors influencing their visual development. Three distinct clinical patterns emerge--severe bilateral ptosis, moderate bilateral ptosis, and asymmetric ptosis--and their differing incidence of amblyopia and strabismus is discussed. The risk of amblyopia is much hig...
متن کاملThe Ohdo blepharophimosis syndrome: a third case.
A patient with a syndrome consisting of blepharophimosis, simple ears, hypoplastic teeth, developmental delay, and hypotonia is described. Previous case reports are reviewed and a differential diagnosis is described. Many of the features in the subject are similar to those described in two previous reports and they constitute a distinct syndrome.
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ژورنال
عنوان ژورنال: Australian and New Zealand Journal of Ophthalmology
سال: 1995
ISSN: 0814-9763,1440-1606
DOI: 10.1111/j.1442-9071.1995.tb00144.x