Pitfalls in counselling of the blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)

J Med Genet. 1989 Aug;26(8):517-9. doi: 10.1136/jmg.26.8.517.

Abstract

Non-penetrance or minimal expression as a genetic counselling problem in the blepharophimosis syndrome is discussed.

Publication types

  • Case Reports
  • Comment

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Adult
  • Blepharoptosis / congenital*
  • Blepharoptosis / genetics
  • Child
  • Eyelids / abnormalities*
  • Female
  • Genetic Counseling*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Syndrome