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Published on: November 20, 2015
Early pathogenesis of holoprosencephaly
Kohei Shiota1, Shigehito Yamada
1Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Japan. shiota@hq.kyoto-u.ac.jp
Holoprosencephaly (HPE) is a common embryonic malformation, with over 90% of affected embryos undergoing spontaneous abortion. This study reviews embryonic HPE phenotypes and discusses malformation pathogenesis.
Area of Science:
- Developmental Biology
- Human Embryology
- Teratology
Background:
- Holoprosencephaly (HPE) is a frequent congenital anomaly in human embryos.
- Most HPE embryos (over 90%) are lost due to spontaneous abortion in utero.
- Embryonic HPE exhibits distinct craniofacial features, differing from postnatal presentations.
Purpose of the Study:
- To review and summarize research findings on Holoprosencephaly in human embryos.
- To discuss the underlying mechanisms and pathogenesis of HPE malformations during embryonic development.
Main Methods:
- Review of existing studies on human embryonic HPE.
- Analysis of phenotypic characteristics in embryonic HPE cases.
- Discussion of pathogenetic pathways implicated in HPE.
Main Results:
- Embryonic HPE presents specific craniofacial phenotypes.
- Significant developmental abnormalities are characteristic of HPE.
- Pathogenesis involves complex developmental disruptions.
Conclusions:
- Embryonic HPE is a critical condition with high in utero lethality.
- Understanding embryonic HPE pathogenesis is crucial for comprehending its developmental impact.
- Further research is needed to fully elucidate HPE developmental pathways.
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