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Related Experiment Videos

Proteus syndrome: an expanded phenotype.

R D Clark, D Donnai, J Rogers

    American Journal of Medical Genetics
    |May 1, 1987
    PubMed
    Summary
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    Proteus syndrome is a rare hamartomatous dysplasia with diverse symptoms like hemihypertrophy and macrodactyly. This study details 11 new cases, highlighting the condition's varied presentation and typical normal intelligence.

    Area of Science:

    • Medical Genetics
    • Dermatology
    • Pediatric Endocrinology

    Background:

    • Proteus syndrome is a rare, sporadic congenital disorder characterized by hamartomatous dysplasia.
    • It presents with a wide spectrum of clinical manifestations, often asymmetric.
    • Understanding its phenotypic variability is crucial for accurate diagnosis and management.

    Observation:

    • This report details 11 new cases of Proteus syndrome.
    • Observed cardinal manifestations include hemihypertrophy, macrodactyly, exostoses, scoliosis, vascular malformations (cavernous hemangiomas), lipomas, linear sebaceous nevi, and rugate soles.
    • Intelligence was typically normal across the observed cases.

    Findings:

    • Proteus syndrome exhibits significant phenotypic heterogeneity, even within the same individual.

    Related Experiment Videos

  • The combination of specific features aids in distinguishing it from other overgrowth syndromes.
  • The sporadic nature suggests a potential somatic mutation event.

    • Implications:

    • Accurate diagnosis of Proteus syndrome relies on recognizing the broad range of its features.
    • Early identification can guide appropriate monitoring for associated complications.
    • Further research into the genetic underpinnings may reveal therapeutic targets.