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An update on the holoprosencephalic disorders

M M Cohen

    The Journal of Pediatrics
    |November 1, 1982
    PubMed
    Summary

    Holoprosencephaly is a complex brain development disorder with many causes. This article reviews recent discoveries, updating the classification of human holoprosencephaly.

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    Area of Science:

    • Developmental Biology
    • Medical Genetics
    • Clinical Neurology

    Background:

    • Holoprosencephaly (HPE) is a congenital disorder characterized by incomplete separation of the forebrain.
    • The etiology of HPE is known to be heterogeneous, involving genetic and environmental factors.
    • Recent advancements have identified new causes and associated syndromes.

    Purpose of the Study:

    • To provide an updated nosology of human holoprosencephaly.
    • To incorporate recent findings on the etiologies and associated syndromes of HPE.
    • To consolidate current knowledge on the diverse causes of holoprosencephaly.

    Main Methods:

    • Literature review of recent studies on holoprosencephaly.
    • Analysis of newly identified etiological factors and syndromes.
    • Synthesis of information to update the classification of HPE.

    Main Results:

    • Several new causes of holoprosencephaly have been identified.
    • Previously unknown or partially delineated syndromes associated with HPE have been described.
    • New associations between HPE and other conditions have become apparent.

    Conclusions:

    • The nosology of human holoprosencephaly requires frequent updates due to ongoing research.
    • Understanding the diverse etiologies is crucial for diagnosis and management of HPE.
    • This updated nosology provides a framework for future research and clinical practice.

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