Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient

Am J Med Genet A. 2008 Aug 15;146A(16):2134-7. doi: 10.1002/ajmg.a.32428.

Abstract

We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence that BFSS and Schilbach-Rott syndrome (SRS) are the same condition.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Blepharophimosis / genetics*
  • Blepharophimosis / surgery
  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • Female
  • Finger Phalanges / abnormalities
  • Finger Phalanges / diagnostic imaging
  • Humans
  • Radiography
  • Syndrome
  • Toe Phalanges / abnormalities
  • Toe Phalanges / diagnostic imaging