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[Holoprosencephaly: pathogenesis, phenotypic characteristics. About four cases].

R Fatnassi1, E Turki, J Belhaj

  • 1Service de gynécologie, hôpital Ibn-Jazzar, Kairouan, Tunisia. ridha.fatnassimohamed@rns.tn

Morphologie : Bulletin De L'Association Des Anatomistes
|July 29, 2011
PubMed
Summary

Holoprosencephaly is a rare brain malformation due to incomplete forebrain cleavage. This report details three alobar and one semilobar holoprosencephaly cases diagnosed late in pregnancy, discussing causes, diagnosis, and management.

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Area of Science:

  • Developmental Biology
  • Neuroscience
  • Medical Genetics

Background:

  • Holoprosencephaly (HPE) is a congenital brain anomaly stemming from failed forebrain division during embryonic development.
  • It encompasses a spectrum of rare, complex disorders with varying severity.
  • The alobar form presents a particularly grave fetal prognosis.

Observation:

  • This study reports on four cases diagnosed in the third trimester of pregnancy.
  • Three cases exhibited the severe alobar form of holoprosencephaly.
  • One case presented with the semilobar form of holoprosencephaly.

Findings:

  • The cases highlight the challenges in diagnosing holoprosencephaly late in gestation.
  • Discussion encompasses the known etiologies, diagnostic modalities, and current management strategies for HPE.
  • Literature review provides context for these rare findings.

Implications:

  • Emphasizes the importance of third-trimester ultrasound for detecting severe brain malformations.
  • Informs clinical practice regarding the diagnosis and management of holoprosencephaly.
  • Contributes to the understanding of HPE spectrum and prognosis.