The Ohdo blepharophimosis syndrome: a third case.
نویسندگان
چکیده
منابع مشابه
The 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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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...
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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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1991
ISSN: 1468-6244
DOI: 10.1136/jmg.28.2.131