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Lobar holoprosencephaly with a median cleft: case report

Elzbieta Gawrych1, Joanna Janiszewska-Olszowska, Anna Walecka

  • 1Department of Child Surgery, Pomeranian Medical University of Szczecin, Poland.

The Cleft Palate-Craniofacial Journal : Official Publication of the American Cleft Palate-Craniofacial Association
|November 26, 2009
PubMed

Insights

Holoprosencephaly, a brain malformation, can present with varied facial defects. This case highlights that craniofacial abnormalities may not always mirror brain malformation severity, allowing survival beyond infancy.

Area of Science:

  • Developmental Biology
  • Clinical Genetics
  • Pediatric Neurology

Background:

  • Holoprosencephaly (HPE) is a spectrum of congenital forebrain developmental disorders.
  • It is characterized by incomplete separation of the prosencephalon (forebrain) into two hemispheres.
  • HPE is associated with a range of facial anomalies, particularly median facial clefts.

Observation:

  • A case report details a child diagnosed with lobar holoprosencephaly.
  • The patient presented with median cleft lip and palate.
  • This specific presentation demonstrates a unique manifestation of craniofacial malformations.

Findings:

  • The study observed that the severity of craniofacial malformations did not directly correlate with the degree of brain malformation.
  • Despite the brain abnormality, the patient exhibited survivability into childhood.
  • This suggests a dissociation between brain and facial defect severity in some HPE cases.

Implications:

  • This case underscores the diverse clinical presentations of holoprosencephaly.
  • It suggests that individuals with milder brain abnormalities may have a better prognosis and longer survival.
  • Further research into genotype-phenotype correlations in HPE is warranted for improved clinical management.

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