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Bol Med Hosp Infant Mex ; 50(8): 586-9, 1993 Aug.
Artigo em Espanhol | MEDLINE | ID: mdl-8357520

RESUMO

We report a Mexican family with two members (mother and daughter) affected with blepharophimosis hereditary syndrome: ptosis of the eyelids, blepharospasm and epicanthus inversus. The daughter presented: hyperopia, astigmatism, hemispheric asymmetry, superficial mental deficiency and ovarian cyst. The mother with ophthalmological affectation, present too border line intellectual quotient. Clinical findings in this family illustrate autosomal dominant trait; differential diagnosis should be taken into account for genetic counselling.


Assuntos
Blefarofimose/genética , Deficiência Intelectual , Cistos Ovarianos , Transtornos da Visão , Criança , Feminino , Humanos , Linhagem , Fenótipo , Síndrome
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