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. (c) 2005 by Elsevier Inc. All rights reserved.
Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations
Parano E;
2005
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. (c) 2005 by Elsevier Inc. All rights reserved.File | Dimensione | Formato | |
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Descrizione: Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations
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