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Quantification of dysmorphogenesis: pattern variability index, sigma z.

S M Garn, M Lavelle, B H Smith

    AJR. American Journal of Roentgenology
    |February 1, 1985
    PubMed
    Summary
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    The pattern variability index (sigma z) quantifies craniofacial differences from normal. Higher sigma z values objectively indicate dysmorphogenesis in congenital malformation syndromes.

    Area of Science:

    • Medical imaging
    • Genetics
    • Anthropometry

    Background:

    • Radiogrammetric measurements assess physical characteristics.
    • Standard deviations from norms (sigma z) indicate deviations.
    • Congenital malformations often present with distinct craniofacial patterns.

    Purpose of the Study:

    • To introduce and validate the pattern variability index (sigma z) as a measure of craniofacial dysmorphogenesis.
    • To establish objective criteria for identifying and quantifying deviations from normal craniofacial appearance.

    Main Methods:

    • Calculating the pattern variability index (sigma z) using Z-scored radiogrammetric measurements.
    • Comparing sigma z values in individuals with and without congenital malformation syndromes.
    • Establishing normal ranges and thresholds for sigma z.

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    Main Results:

    • A sigma z value of 1.2 approximates the 95th percentile for normal individuals.
    • Individuals with congenital malformation syndromes typically exhibit sigma z values exceeding 1.2, often reaching 1.8-2.0 or higher.
    • Sigma z provides a quantifiable measure of craniofacial dysmorphogenesis.

    Conclusions:

    • The pattern variability index (sigma z) is a reliable objective indicator of dysmorphogenesis.
    • Sigma z effectively quantifies the degree of craniofacial abnormality in congenital malformation syndromes.
    • This index aids in diagnosing and assessing the severity of craniofacial differences.