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Familial hemifacial microsomia.

K Taysi, J L Marsh, D M Wise

    The Cleft Palate Journal
    |January 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Hemifacial microsomia, a rare genetic disorder, was studied in a family across two generations. The findings suggest a potential autosomal dominant inheritance pattern for this condition.

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    Area of Science:

    • Genetics
    • Medical Science
    • Developmental Biology

    Background:

    • Hemifacial microsomia is a recognized condition within the Facio-Auriculo-Vertebral Spectrum.
    • It is typically considered a sporadic condition, with rare reports of familial occurrence.

    Purpose of the Study:

    • To investigate the inheritance pattern of hemifacial microsomia in a multi-generational family.
    • To analyze the genetic basis of hemifacial microsomia in the described family.

    Main Methods:

    • Pedigree analysis of a family with multiple affected individuals across two generations.
    • Clinical evaluation of affected individuals for hemifacial microsomia and related features.

    Main Results:

    • A family with five affected individuals (three males, two females) spanning two generations was identified.

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  • The observed inheritance pattern in the family is most consistent with autosomal dominant inheritance.

    • Conclusions:

    • The study provides evidence supporting a genetic, likely autosomal dominant, mode of inheritance for hemifacial microsomia in this family.
    • While autosomal dominant inheritance is most likely, X-linked dominant or multifactorial inheritance cannot be definitively ruled out without further genetic studies.