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Phenotypic variation in Meckel syndrome

M J Seller

    Clinical Genetics
    |July 1, 1981
    PubMed
    Summary

    Meckel syndrome, an autosomal recessive disorder, presents with varied symptoms. This study highlights phenotypic variation, with some affected siblings showing only two of the three cardinal signs.

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    Area of Science:

    • Genetics
    • Developmental Biology
    • Medical Genetics

    Background:

    • Meckel syndrome is a severe autosomal recessive developmental disorder.
    • Characterized by a triad of abnormalities: encephalocele, polycystic kidneys, and postaxial polydactyly.
    • Significant phenotypic variability complicates diagnosis and understanding.

    Observation:

    • Four siblings presented with Meckel syndrome, exhibiting only encephalocele and polycystic kidneys, notably lacking polydactyly.
    • This presentation represents a specific subset of Meckel syndrome manifestations.
    • Literature review confirms this pattern occurs in 16% of documented cases.

    Findings:

    • Phenotypic variation is common in Meckel syndrome, with 57% of cases showing all three cardinal signs.
    • The observed presentation (encephalocele and polycystic kidneys) is a recognized, albeit less common, phenotype.
    • Intrafamilial variability in symptom expression was noted in families with multiple affected siblings.

    Implications:

    • Understanding Meckel syndrome's phenotypic spectrum is crucial for accurate genetic counseling and diagnosis.
    • Recognizing atypical presentations aids in early identification and management of affected individuals.
    • Further research into the genetic and molecular basis of Meckel syndrome variability is warranted.

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