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[LEOPARD syndrome].

H Butenschön, G Burg, M Lentze

    Zeitschrift Fur Hautkrankheiten
    |July 1, 1979
    PubMed
    Summary

    LEOPARD syndrome is a rare genetic disorder. Key symptoms like lentigines, heart abnormalities, and growth issues are consistently observed in affected individuals.

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    Area of Science:

    • Genetics
    • Cardiology
    • Pediatrics

    Background:

    • LEOPARD syndrome is a rare autosomal dominant disorder.
    • Characterized by a constellation of congenital anomalies.

    Observation:

    • Presents three clinical cases of LEOPARD syndrome.
    • Includes a comprehensive review of existing literature.

    Findings:

    • Lentigines, ECG abnormalities, pulmonary stenosis, growth retardation, and deafness exhibit high penetrance.
    • These symptoms are the most consistently observed features of the syndrome.

    Implications:

    • Highlights the diagnostic importance of recognizing key phenotypic features.
    • Contributes to understanding the variable expressivity and penetrance of LEOPARD syndrome mutations.