PubMed Health⌕ Search

Biomedical subjects

A Ruíz-Manjarrez

Publications and source records attributed to A Ruíz-Manjarrez.

1 recordsLinked to original sources

[Hereditary blepharophimosis with visual alterations].

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.

Blepharophimosis↗