[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.
Ruíz-Manjarrez
A
A
Servicio de Pediatría, Genética y Oftalmología, Instituto Nacional de Salud Mental, México, D.F.
Guillén-Añorve
B
B
Núñez-Gómez
R
R
D016569:Blepharophimosis / Q000235:genetics*; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D010048:Ovarian Cysts; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D014786:Vision Disorders
Blefarofimosis hereditaria con alteraciones visuales.