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Related Experiment Videos

The Leopard (multiple lentigines) syndrome revisited.

R J Gorlin, R C Anderson, J H Moller

    Birth Defects Original Article Series
    |March 1, 1971
    PubMed
    Summary

    Leopard syndrome is a rare genetic disorder characterized by multiple lentigines, heart abnormalities, and other distinct features. This autosomal dominant condition requires careful diagnosis and management.

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    Area of Science:

    • Genetics
    • Cardiology
    • Pediatrics

    Background:

    • Leopard syndrome is a rare autosomal dominant disorder.
    • It presents with a distinct constellation of clinical features.

    Purpose of the Study:

    • To describe the key clinical manifestations of Leopard syndrome.
    • To highlight the genetic inheritance pattern.

    Main Methods:

    • Clinical case review.
    • Review of diagnostic criteria for Leopard syndrome.

    Main Results:

    • Leopard syndrome is defined by Lentigines, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormalities of genitalia, Retardation of growth, and Deafness.
    • Associated findings include café-noir spots, specific ECG patterns (S1, S2, S3), pulmonary valvular dysplasia, septal defects, and genitourinary anomalies.

    Conclusions:

    • Leopard syndrome is a multisystem disorder with autosomal dominant inheritance.
    • Early recognition and diagnosis are crucial for patient management.

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