Holoprosencephaly with proboscis

Gynecol Obstet Invest. 1996;42(1):70-2. doi: 10.1159/000291893.

Abstract

This is the case of a male newborn with holoprosencephaly, marked hypotelorism, and a rudimentary nasal structure, the proboscis. The head CT scan showed a single monoventricle and two ocular globes fused at the midline. Chromosome studies showed a normal karyotype. The importance of ultrasonography in the prenatal diagnosis of this malformation is presented.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain / diagnostic imaging
  • Cleft Palate
  • Echoencephalography
  • Fatal Outcome
  • Female
  • Holoprosencephaly* / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Karyotyping
  • Male
  • Nose / abnormalities*
  • Pregnancy
  • Tomography, X-Ray Computed