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Schisis-association

A Czeizel

    American Journal of Medical Genetics
    |January 1, 1981
    PubMed
    Summary
    This summary is machine-generated.

    Certain birth defects, including neural tube defects and oral clefts, frequently co-occur. This association, termed schisis-association, is often lethal and linked to specific maternal and infant factors.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Pediatric Surgery

    Background:

    • Neural tube defects (anencephaly, encephalocele, spina bifida cystica), oral clefts, omphalocele, and diaphragmatic hernia are significant congenital anomalies.
    • These defects are known to occur, but their non-random co-occurrence patterns require further investigation.

    Purpose of the Study:

    • To investigate the association rates of specific congenital abnormalities, particularly schisis-type defects.
    • To identify demographic and clinical factors associated with these combined abnormalities.

    Main Methods:

    • Analysis of co-occurrence rates of neural tube defects, oral clefts, omphalocele, and diaphragmatic hernia.
    • Statistical examination of sex ratio, twinning, presentation, birth weight, gestational age, maternal miscarriage rates, and sibling occurrence.

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    Main Results:

    • Neural tube defects, oral clefts, omphalocele, and diaphragmatic hernia associate more frequently than expected by chance.
    • The combined entity, termed schisis-association, is associated with higher rates in females, twins, breech presentations, lower birth weight, and shorter gestation.
    • Maternal miscarriage rates were higher, and 3.7% of siblings were affected, primarily with isolated neural tube defects or oral clefts.

    Conclusions:

    • The observed co-occurrence of specific congenital abnormalities suggests underlying shared developmental pathways.
    • Schisis-association represents a distinct, often lethal, clinical entity with identifiable risk factors.
    • Further research into the etiology and management of these associated defects is warranted.