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The first Scottish "Leopard"?

J G Cleland, L Mann, I Findlay

    Scottish Medical Journal
    |July 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Leopard Syndrome, a rare genetic disorder, presents with multiple symptoms including heart issues and skin abnormalities. This report details a unique case in Scotland, highlighting the condition's varied presentation.

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    Area of Science:

    • Genetics
    • Cardiology
    • Dermatology

    Background:

    • Leopard Syndrome is a rare autosomal dominant genetic disorder.
    • It affects multiple organ systems, presenting with a diverse range of clinical manifestations.

    Observation:

    • A case report of a 35-year-old woman is presented.
    • The patient exhibited hypertrophic obstructive cardiomyopathy, multiple pigmented naevi, and growth retardation.

    Findings:

    • This case represents a unique constellation of symptoms associated with Leopard Syndrome.
    • The occurrence of these specific symptoms in a single patient underscores the syndrome's phenotypic variability.

    Implications:

    • This report expands the clinical understanding of Leopard Syndrome.

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  • It may aid in earlier diagnosis and management of affected individuals, particularly in regions with limited reported cases.
  • Further research into the genetic and phenotypic correlations of Leopard Syndrome is warranted.