Meier-Gorlin syndrome presenting as early infantile epileptic encephalopathy

BMJ Case Rep. 2020 Aug 24;13(8):e235468. doi: 10.1136/bcr-2020-235468.
No abstract available

Keywords: genetics; neuroimaging.

Publication types

  • Case Reports

MeSH terms

  • Congenital Microtia / complications*
  • Congenital Microtia / diagnosis
  • Female
  • Growth Disorders / complications*
  • Growth Disorders / diagnosis
  • Humans
  • Infant
  • Micrognathism / complications*
  • Micrognathism / diagnosis
  • Patella / abnormalities*
  • Spasms, Infantile / etiology

Supplementary concepts

  • Infantile Epileptic-Dyskinetic Encephalopathy
  • Meier-Gorlin syndrome