1.
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.