Blepharophimosis, ptosis, polythelia and brachydactyly (BPPB): a new autosomal dominant syndrome?

Clin Dysmorphol. 1993 Oct;2(4):346-50.

Abstract

A father and two sons with blepharophimosis, ptosis, polythelia and brachydactyly are presented, apparently without other abnormalities. The features do not fit into any previously described syndrome. This condition may represent a hitherto undescribed syndrome, although resemblance with the blepharophimosis-ptosis-epicanthus inversus syndrome exists. Inheritance is probably autosomal dominant.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Blepharophimosis / genetics*
  • Blepharoptosis / genetics*
  • Child
  • Genes, Dominant*
  • Hand Deformities, Congenital / diagnostic imaging
  • Hand Deformities, Congenital / genetics*
  • Humans
  • Male
  • Nipples / abnormalities*
  • Radiography
  • Syndrome