title: [Familial coexistence of the association: Fabry's syndrome and congenital ptosis].
abstract: The authors undertook a clinical and genetic study in a large family with the aim of identifying the mode of inheritance of Fabry syndrome and congenital ptosis. These two types of pathology were present to varying extents. The family pedigree consisted of 95 individuals, spanning 5 generations. Three individuals (males) were found to have Fabry syndrome and 14 (males and females) congenital ptosis. The patients with Fabry syndrome also had congenital ptosis. According to these results, Fabry syndrome is inherited by an X-linked recessive mode and congenital ptosis by an autosomal dominant mode.
authors.affiliation: Clinique Universitaire d'Ophtalmologie, Ioannina, Grèce.
authors.forename: G
authors.initials: G
authors.lastname: Kitsos
authors.forename: I
authors.initials: I
authors.lastname: Rebapis
authors.forename: L
authors.initials: L
authors.lastname: Darlamitsou
authors.forename: K
authors.initials: K
authors.lastname: Bassioukas
authors.forename: K
authors.initials: K
authors.lastname: Psilas
mesh_terms: D001763:Blepharoptosis / Q000150:complications / Q000151:congenital / Q000235:genetics*; D000795:Fabry Disease / Q000150:complications / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree
vernacular_title: Coexistence familiale de l'association: syndrome de Fabry et ptosis congénital.