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Related Experiment Videos

[Robinow's syndrome].

D Khayat, H Szpirglas, M P Lemonnier

    Revue De Stomatologie Et De Chirurgie Maxillo-Faciale
    |January 1, 1983
    PubMed
    Summary
    This summary is machine-generated.

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    Robinow syndrome is a rare genetic disorder characterized by short stature and multiple malformations. This case highlights key clinical and radiologic features for accurate diagnosis.

    Area of Science:

    • Medical Genetics
    • Clinical Medicine
    • Radiology

    Context:

    • Robinow syndrome is a rare autosomal dominant disorder.
    • Characterized by distinctive facial features, skeletal dysplasia, and variable expressivity.
    • Genetic basis and transmission mechanisms remain largely unknown.

    Purpose:

    • To discuss the clinical and radiologic findings of Robinow syndrome.
    • To present a case study illustrating the syndrome's manifestations.
    • To aid in the differential diagnosis of rare genetic disorders.

    Summary:

    • The case presented with nanism, mesomelic brachymelia, buccofacial anomalies, genital hypoplasia, and hemivertebra.
    • Diagnostic features include short stature and multiple congenital malformations.

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  • Normal karyotype is a consistent finding in affected individuals.

    • Impact:

    • Enhances understanding of Robinow syndrome's phenotypic spectrum.
    • Provides valuable information for clinicians in diagnosing rare skeletal dysplasias.
    • Contributes to the literature on genetic malformation syndromes.