Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations.
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.
Pavone
Piero
P
Department of Pediatrics, University of Catania, Italy.
Barbagallo
Massimo
M
Parano
Enrico
E
Pavone
Lorenzo
L
Souayah
Nyzar
N
Trifiletti
Rosario R
RR
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