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Related Experiment Videos

Sternal malformation/vascular dysplasia association.

J H Hersh, D Waterfill, J Rutledge

    American Journal of Medical Genetics
    |May 1, 1985
    PubMed
    Summary

    A rare sternal cleft malformation linked with craniofacial hemangiomata is described. This association highlights the need to screen for dangerous internal vascular lesions.

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    Area of Science:

    • Medical Genetics
    • Developmental Biology
    • Vascular Malformations

    Background:

    • Sternal defects are uncommon congenital anomalies.
    • Craniofacial vascular lesions, such as hemangiomata, can occur independently.
    • The simultaneous occurrence of sternal defects and craniofacial hemangiomata is exceptionally rare.

    Observation:

    • This report details two patients presenting with both a sternal cleft and cutaneous, craniofacial hemangiomata.
    • Internal vascular lesions were also identified in both patients, affecting the respiratory tract and viscera.
    • This specific combination suggests a recognizable sternal malformation and vascular dysplasia association.

    Findings:

    • The pathogenesis is unclear but may involve early midline mesodermal disturbances during gestational weeks 6-9.

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  • Possible mechanisms include incomplete fusion of sternal bands or deficient formation of midline structures.
  • Persistence and proliferation of midline angioblastic tissue may also contribute.

    • Implications:

    • The presence of this association warrants a thorough search for potentially life-threatening internal hemangiomata.
    • Early recognition is crucial for timely diagnosis and management of associated vascular anomalies.
    • This finding expands the understanding of rare congenital malformation syndromes.