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Familial holoprosencephaly.

L Dallaire, F C Fraser, F W Wiglesworth

    Birth Defects Original Article Series
    |June 1, 1971
    PubMed
    Summary
    This summary is machine-generated.

    A single gene defect causes a familial faciocerebral syndrome with varied symptoms, including eyelid fusion, absent nose, and brain ventricle anomalies. This genetic condition exhibits variable expressivity and reduced penetrance in affected families.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Clinical Medicine

    Background:

    • Familial occurrence of congenital anomalies involving facial and cerebral structures suggests a genetic etiology.
    • Previous studies have identified various craniofacial and brain malformations, but a unifying syndrome with specific genetic underpinnings is often elusive.

    Purpose of the Study:

    • To investigate the genetic basis of a familial syndrome characterized by diverse anomalies of the face and brain.
    • To analyze the inheritance pattern and genetic model for the described faciocerebral syndrome.

    Main Methods:

    • Pedigree analysis of an affected family.
    • Clinical examination and documentation of phenotypic variations.
    • Review of existing literature on similar congenital anomalies.

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    Main Results:

    • The family pedigree analysis strongly supports a single gene defect as the cause of the observed faciocerebral syndrome.
    • The syndrome displays significant variable expressivity, with manifestations ranging from eyelid fusion to severe craniofacial malformations like absent nose and single brain ventricle.
    • Reduced penetrance was also noted, indicating that not all individuals with the gene defect express the phenotype.

    Conclusions:

    • A single gene defect is the likely cause of the familial faciocerebral syndrome.
    • The syndrome's presentation is highly variable, underscoring the importance of genetic counseling and understanding variable expressivity and reduced penetrance in inherited disorders.