Harlequin fetus and micromelia

Prenat Diagn. 1989 Oct;9(10):709-13. doi: 10.1002/pd.1970091006.

Abstract

A fetus was born prematurely after a 34-week pregnancy whose evolution was marked by the ultrasonic finding at 23 weeks of a considerable shortening of the long bones. At birth, the newborn infant bore the appearance of a harlequin fetus. There was no dwarfism, but the micromelia discovered in utero was confirmed both clinically and radiologically. Such global micromelia associated with this kind of pathology has never been described, not to mention witnessed, in utero and may be part of the fetal akinesia sequence phenotype.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Female
  • Femur / abnormalities
  • Fetal Diseases / diagnosis*
  • Humans
  • Ichthyosis / complications*
  • Ichthyosis / diagnosis
  • Infant, Newborn
  • Limb Deformities, Congenital*
  • Pregnancy
  • Syndrome
  • Ultrasonography*