Blepharophimosis syndrome: An atypical case
نویسندگان
چکیده
منابع مشابه
Anterior Plagiocephaly in an Atypical Case of Apert Syndrome
Apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. We present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. However, type I apert hand and other clinical and radiological features suggestthe diagnosis. Genetic analysis revealed an absence of ...
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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Tietze’s syndrome is an inflammatory disorder, which frequently misdiagnosed as the severe life-threating problem. Herein, we reported a case of a 23-year-old male, who complained about the acute chest pain after pneumonia complication. After full examination, he diagnosed as Tietze’s syndrome. Since the precise diagnosis of Tietze’s syndrome has a great importance, our report may raise conscio...
متن کاملanterior plagiocephaly in an atypical case of apert syndrome
apert syndrome is a congenital craniosynostosis syndrome comprising of bilateral coronal synostosis , symmetric syndactyly of hands and feet and midface hypoplasia. we present an atypical phenotype of this syndrome with right sided unilateral coronal synostosis. however, type i apert hand and other clinical and radiological features suggestthe diagnosis. genetic analysis revealed an absence of ...
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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ژورنال
عنوان ژورنال: Eye
سال: 1994
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1994.118