Holoprosencephaly sequence

Rom J Morphol Embryol. 2011;52(2):725-8.


Holoprosencephaly (HPE) sequence is a rare spectrum of cerebral and facial malformations resulting from incomplete division of the embryonic forebrain into distinct lateral cerebral hemisphere. Three ranges of increasing severity are described: lobar, semi-lobar and alobar HPE. A subtype of HPE called middle inter-hemispheric variant (MIHF) has been also reported. The etiology is heterogeneous: teratogens, chromosomal abnormalities and single gene mutations can be involved. Holoprosencephaly results in early morbidity and mortality with a reduced survival beyond neonatal period. The disorder is estimated to occur in 1/16,000 live births. This case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities.

Publication types

  • Case Reports

MeSH terms

  • Chromosomes, Human / genetics
  • Cleft Palate / complications
  • Fatal Outcome
  • Holoprosencephaly / complications
  • Holoprosencephaly / diagnostic imaging
  • Holoprosencephaly / pathology*
  • Humans
  • Karyotyping
  • Male
  • Ultrasonography