Clinical heterogeneity in familial congenital ptosis: analysis of fourteen cases in one family over five generations

Pediatr Neurol. 2005 Oct;33(4):251-4. doi: 10.1016/j.pediatrneurol.2005.03.018.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharoptosis / congenital
  • Blepharoptosis / genetics*
  • Family Health
  • Family*
  • Female
  • Genes, Dominant
  • Humans
  • Infant
  • Male
  • Pedigree
  • Penetrance

Associated data

  • OMIM/178300
  • OMIM/300245