Intermediate form of ablepharon-macrostomia syndrome with CNS abnormalities

Am J Med Genet. 2001 Oct 15;103(3):252-4. doi: 10.1002/ajmg.1540.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Central Nervous System / abnormalities*
  • Chromosome Banding
  • Developmental Disabilities / genetics
  • Developmental Disabilities / physiopathology*
  • Diagnosis, Differential
  • Epilepsy / genetics
  • Eyelids / abnormalities
  • Follow-Up Studies
  • Humans
  • Infant
  • Karyotyping
  • Macrostomia / complications*
  • Macrostomia / genetics*
  • Macrostomia / pathology
  • Male