Blepharophimosis, telecanthus, microstomia, and unusual ear anomaly (Simosa syndrome) in an infant

Am J Med Genet. 1994 Jul 1;51(3):222-3. doi: 10.1002/ajmg.1320510309.


We report on a 1-month-old infant with blepharophimosis, telecanthus, ear anomalies, and microstomia. He also had a long philtrum and a narrow, high-arched palate. This case is very similar to the cases reported by Simosa et al. [1989: Am J Med Genet 32:184-186]. In addition, our patient had tongue tie and camptodactyly of fingers.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Blepharophimosis*
  • Ear, External / abnormalities*
  • Eyelids / abnormalities
  • Humans
  • Infant
  • Male
  • Microstomia*
  • Syndrome