[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
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.
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.
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