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The Robinow syndrome

P Petit, J P Fryns, P Goddeeris

    Annales De Genetique
    |January 1, 1980
    PubMed
    Summary
    This summary is machine-generated.

    Robinow syndrome, a rare genetic disorder, typically presents with specific physical features. This case highlights a newborn with typical Robinow syndrome stigmata, but notably normal genital development, differing from most reported cases.

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    Area of Science:

    • Medical Genetics
    • Pediatric Pathology

    Background:

    • Robinow syndrome is a rare autosomal dominant developmental disorder characterized by a distinctive facial appearance, skeletal abnormalities, and variable degrees of genital hypoplasia.
    • The syndrome's presentation can be highly variable, making diagnosis challenging and necessitating detailed case reporting.