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Related Experiment Videos

Lymphatic abnormalities in Noonan's syndrome.

P Lanning, S Similä, I Suramo

    Pediatric Radiology
    |June 19, 1978
    PubMed
    Summary

    This study reports lymphatic abnormalities in five boys with Noonan syndrome, revealing impaired superficial lymphatic flow and potential lymphatic hypoplasia in these patients.

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    Area of Science:

    • Pediatric Medicine
    • Genetics
    • Vascular Biology

    Background:

    • Noonan syndrome is a genetic disorder associated with various congenital anomalies.
    • Peripheral edema is a common feature in Noonan syndrome, particularly in infancy.
    • Lymphatic abnormalities are increasingly recognized as a component of Noonan syndrome.

    Observation:

    • Five boys diagnosed with Noonan syndrome were evaluated for lymphatic abnormalities.
    • Clinical lymphoedema was observed in the youngest patient.
    • Four patients exhibited dermal backflow after Patent Blue injection, indicating superficial lymphatic dysfunction.

    Findings:

    • Lymphography revealed lymphatic abnormalities in four out of the five patients.
    • Impaired lymphatic flow along superficial vessels was a consistent finding.
    • One patient presented with severe bilateral chylothorax, a serious lymphatic complication.

    Implications:

    • These findings suggest that lymphatic hypoplasia or dysfunction may be a significant, underdiagnosed feature of Noonan syndrome.
    • Lymphographic assessment can aid in diagnosing and understanding the extent of lymphatic involvement.
    • Further research into the genetic and molecular basis of these lymphatic abnormalities in Noonan syndrome is warranted.

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