title: [Intrafamilial variation in congenital ophthalmoplegia: studies in a Sicilian family].
abstract: Nine members of a Sicilian family, in four successive generations, showed a congenital eye defect of much variable severity, from simple blepharoptosis to complete external ophthalmoplegia, without other ocular or extraocular abnormalities. The anomaly in this pedigree was transmitted as an autosomal dominant character with incomplete penetrance and extremely variable expressivity.
mesh_terms: D005260:Female; D005799:Genes, Dominant; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009886:Ophthalmoplegia / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012802:Sicily
vernacular_title: Variabilite intrafamiliale de l'ophtalmoplegie externe congenitale: etude d'une famille sicilienne.