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[Hereditary blepharophimosis with visual alterations]
A Ruíz-Manjarrez1, B Guillén-Añorve, R Núñez-Gómez
1Servicio de Pediatría, Genética y Oftalmología, Instituto Nacional de Salud Mental, México, D.F.
Boletin Medico Del Hospital Infantil De Mexico
|August 1, 1993
Abstract:
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.