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Variable expression in Pfeiffer syndrome

H M Sanchex, T C De Negrotti

    Journal of Medical Genetics
    |February 1, 1981
    PubMed
    Summary

    Pfeiffer syndrome (acrocephalosyndactyly V) shows significant intrafamilial variation. Mildly affected individuals may be undiagnosed, impacting genetic counseling accuracy.

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    Area of Science:

    • Genetics
    • Medical Genetics
    • Developmental Biology

    Background:

    • Pfeiffer syndrome, also known as acrocephalosyndactyly V, is a rare genetic disorder.
    • It is characterized by premature fusion of skull bones and distinctive facial features.

    Observation:

    • A female infant diagnosed with Pfeiffer syndrome was presented.
    • Her mother exhibited craniofacial features suggestive of a milder form of the syndrome, despite lacking limb malformations.

    Findings:

    • This case highlights significant intrafamilial variability in the phenotypic expression of Pfeiffer syndrome.
    • The mother's undiagnosed mild presentation underscores the potential for missed diagnoses in affected relatives.

    Implications:

    • Undiagnosed mild cases of Pfeiffer syndrome can lead to inaccurate genetic counseling for families.
    • Detailed clinical investigation is crucial for accurate diagnosis and management of genetic disorders with variable expressivity.

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