Prenatal diagnosis of a new syndrome: holoprosencephaly with hypokinesia

Prenat Diagn. 1987 Nov;7(9):631-8. doi: 10.1002/pd.1970070905.

Abstract

Markedly decreased fetal activity (akinesia/hypokinesia) is usually readily apparent to experienced mothers, and frequently this concern leads to attempts at prenatal diagnosis. We report prenatal diagnosis of two fetuses with congenital contractures, markedly decreased fetal movement, and microcephaly due to severe holoprosencephaly. Such familial recurrence to phenotypically normal parents suggests a newly recognized autosomal recessive or X-linked syndrome that is readily detectable by prenatal ultrasonography.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Adult
  • Brain / abnormalities*
  • Contracture / diagnosis
  • Female
  • Fetal Growth Retardation / diagnosis
  • Fetal Movement*
  • Humans
  • Joints
  • Microcephaly / diagnosis
  • Pregnancy
  • Prenatal Diagnosis*
  • Syndrome
  • Ultrasonography*