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Related Experiment Videos

The Coffin syndrome

J P Fryns, L Vinken, H Van den Berghe

    Human Genetics
    |May 10, 1977
    PubMed
    Summary
    This summary is machine-generated.

    This study presents two brothers with Coffin syndrome, reviewing fifteen other cases. The molecular cause and inheritance pattern of this rare genetic disorder remain unclear.

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    Area of Science:

    • Genetics
    • Rare Diseases
    • Clinical Medicine

    Background:

    • Coffin syndrome is a clinically recognizable genetic disorder.
    • The molecular basis and inheritance pattern are not fully understood.

    Purpose of the Study:

    • To present two new cases of Coffin syndrome.
    • To review existing literature on Coffin syndrome.
    • To discuss potential modes of inheritance.

    Main Methods:

    • Case presentation of two affected brothers.
    • Literature review of fifteen previously reported cases.

    Main Results:

    • Two new cases of Coffin syndrome were identified.
    • A review of available literature was conducted.

    Conclusions:

    • The molecular defect underlying Coffin syndrome is currently unknown.
    • Possible inheritance patterns include sex-linked recessive, sex-limited autosomal dominant, or autosomal dominant with variable expression.