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Holt-Oram syndrome.

A T Smith, G H Sack, G J Taylor

    The Journal of Pediatrics
    |October 1, 1979
    PubMed
    Summary
    This summary is machine-generated.

    Holt-Oram syndrome links upper limb skeletal defects with congenital heart disease. This study highlights left-sided asymmetry and the potential for transmission from affected individuals, even with isolated skeletal issues.

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    Area of Science:

    • Genetics
    • Cardiology
    • Orthopedics

    Background:

    • Holt-Oram syndrome is an autosomal dominant disorder.
    • It involves upper extremity skeletal malformations and congenital heart disease.
    • The severity of skeletal and cardiac defects often varies.

    Purpose of the Study:

    • To review clinical experiences with Holt-Oram syndrome.
    • To identify and emphasize previously under-recognized features of the syndrome.
    • To improve understanding of its genetic transmission and clinical presentation.

    Main Methods:

    • Retrospective review of 39 patients with Holt-Oram syndrome.
    • Analysis of skeletal and cardiac defect types and severity.
    • Assessment of family history and mutation status.

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    Main Results:

    • Observed wide variability in skeletal and cardiac defects.
    • Noted striking left-sided asymmetry in skeletal involvement.
    • Identified transmission of both skeletal and cardiac defects from parents with only skeletal issues.
    • Found hypoplastic peripheral vessels complicating cardiac catheterization.
    • Observed inconsistent electrocardiographic findings in secundum atrial septal defects.

    Conclusions:

    • Holt-Oram syndrome exhibits significant phenotypic variability.
    • Asymmetry, particularly left-sided, is a notable feature.
    • Genetic transmission can occur even with isolated skeletal abnormalities.
    • Associated vascular anomalies and diagnostic challenges exist.
    • ECG findings may not be uniformly present in all cases.