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Related Experiment Videos

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome: dominant inheritance and variable expression

V B Penchaszadeh, T C de Negrotti

    Journal of Medical Genetics
    |August 1, 1976
    PubMed
    Summary

    Ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome shows significant phenotypic variability. This case highlights how the condition can present differently, even within the same family, impacting genetic counseling and diagnosis.

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    Area of Science:

    • Medical Genetics
    • Clinical Dysmorphology
    • Pediatric Case Reports

    Background:

    • Ectrodactyly-ectodermal dysplasia clefting (EEC) syndrome is a rare genetic disorder.
    • It is typically inherited in an autosomal dominant pattern with reduced penetrance.
    • Phenotypic variability is a known characteristic of EEC syndrome.

    Purpose of the Study:

    • To report a case of complete EEC syndrome in an infant.
    • To illustrate the phenotypic variability of EEC syndrome within a family.
    • To emphasize the importance of considering variable expressivity in genetic disorders.

    Main Methods:

    • Clinical observation and documentation of an infant with EEC syndrome.
    • Review of the affected mother's partial expression of the condition.

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  • Analysis of inheritance patterns and phenotypic presentation.

    • Main Results:

    • An infant presented with the complete form of EEC syndrome.
    • The infant inherited the condition from his mother, who exhibited a partial phenotype without clefting.
    • This case demonstrates significant intrafamilial phenotypic variability.

    Conclusions:

    • The phenotypic variability of EEC syndrome can be substantial, even within a single family.
    • Reduced penetrance and variable expressivity are key features of EEC syndrome.
    • Accurate diagnosis and genetic counseling require careful assessment of family history and phenotypic presentation.