Document Detail


Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations.
MedLine Citation:
PMID:  16194722     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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:
Piero Pavone; Massimo Barbagallo; Enrico Parano; Lorenzo Pavone; Nyzar Souayah; Rosario R Trifiletti
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Pediatric neurology     Volume:  33     ISSN:  0887-8994     ISO Abbreviation:  Pediatr. Neurol.     Publication Date:  2005 Oct 
Date Detail:
Created Date:  2005-09-30     Completed Date:  2005-12-14     Revised Date:  2006-05-23    
Medline Journal Info:
Nlm Unique ID:  8508183     Medline TA:  Pediatr Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  251-4     Citation Subset:  IM    
Affiliation:
Department of Pediatrics, University of Catania, Italy.
Data Bank Information
Bank Name/Acc. No.:
OMIM/178300;  300245
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MeSH Terms
Descriptor/Qualifier:
Adult
Blepharoptosis / congenital,  genetics*
Family*
Family Health
Female
Genes, Dominant
Humans
Infant
Male
Pedigree
Penetrance

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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