title: Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations.
abstract: This report describes a proband and his family consisting of 14 patients affected with simple congenital ptosis. Pedigree suggests an autosomal dominant pattern with 70-90% penetrance. The family includes patients with both unilateral and bilateral involvement, and cases with and/or without complex synkinesia. Left unilateral preponderance is striking, and pedigree analysis suggests the possibility of a modifier gene determining laterality. This study represents the first report of a large family with congenital autosomal dominant simple ptosis which demonstrates the full clinical spectrum of this condition.
authors.affiliation: Department of Pediatrics, University of Catania, Italy.
authors.forename: Piero
authors.initials: P
authors.lastname: Pavone
authors.forename: Massimo
authors.initials: M
authors.lastname: Barbagallo
authors.forename: Enrico
authors.initials: E
authors.lastname: Parano
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
authors.forename: Nyzar
authors.initials: N
authors.lastname: Souayah
authors.forename: Rosario R
authors.initials: RR
authors.lastname: Trifiletti
mesh_terms: D000328:Adult; D001763:Blepharoptosis / Q000151:congenital / Q000235:genetics*; D005190:Family; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree; D019683:Penetrance