Holoprosencephaly--report of two cases

Int J Pediatr Otorhinolaryngol. 2005 Nov;69(11):1563-8. doi: 10.1016/j.ijporl.2005.04.031. Epub 2005 Aug 3.

Abstract

Holoprosencephaly (HPE) is a developmental defect resulting from incomplete cleavage of the embryonic forebrain structures during early embryogenesis. It includes a series of rare complex disorders. Chromosomal abnormalities, single gene disorders and teratogenic agents are responsible for holoprosencephaly. We report two rare cases of alobar HPE with a rudimental nasal structure (proboscis) located under the eyes. One of the patients survived for 9 months and the other one survived 40 days.

Publication types

  • Case Reports

MeSH terms

  • Brain / abnormalities
  • Brain / diagnostic imaging
  • Fatal Outcome
  • Female
  • Holoprosencephaly / diagnosis*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Nose / abnormalities
  • Radiography
  • Respiratory Distress Syndrome, Newborn / etiology