Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene

Maartje C. van Rij, Fenna A. R. Jansen, Debby M. E. I. Hellebrekers, W. Onkenhout, Bert Smeets, Alexandra T. Hendrickx, Ralph W. H. Gottschalk, Sylke J. Steggerda, Cacha M. P. C. D. Peeters-Scholte, Monique C. Haak, Yvonne Hilhorst-Hofstee

Research output: Contribution to journalEditorialAcademicpeer-review

Original languageEnglish
Pages (from-to)425-428
JournalClinical Case Reports
Issue number4
Publication statusPublished - Apr 2016


  • Cerebellar atrophy
  • encephalomyopathy
  • FBXL4 gene
  • lactate
  • mitochondrial encephalopathy
  • polyhydramnios
  • pyruvate

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