Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon

Am J Med Genet A. 2022 Mar;188(3):1000-1004. doi: 10.1002/ajmg.a.62600. Epub 2021 Dec 11.
No abstract available

MeSH terms

  • CHARGE Syndrome*
  • Ectromelia* / diagnosis
  • Ectromelia* / diagnostic imaging
  • Femur
  • Humans
  • Tibia / abnormalities
  • Tibia / diagnostic imaging

Supplementary concepts

  • Absence of Tibia